A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.5202
Abstract: Clinical interpretation of genetic test results is complicated by variants of uncertain significance (VUS) that have an unknown impact on health but can be clarified through reclassification. There is little empirical evidence regarding VUS reclassification… read more here.
Keywords: reclassification; impact; uncertain significance; multicenter study ... See more keywords
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23609
Abstract: Additional variant interpretation tools are required to effectively harness genomic sequencing for clinical applications. The American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) published guidelines for clinical sequence variant… read more here.
Keywords: interpretation; functional evidence; variants uncertain; uncertain significance ... See more keywords
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24160
Abstract: Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six… read more here.
Keywords: variants uncertain; functional validation; uncertain significance; fdxr deficiency ... See more keywords
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24394
Abstract: While whole‐genome and exome sequencing have transformed our collective understanding of genetics' role in disease pathogenesis, there are certain conditions and populations for whom DNA‐level data fails to identify the underlying genetic etiology. Specifically, patients… read more here.
Keywords: transcriptome analysis; uncertain significance; analysis; provides critical ... See more keywords
Distribution and transmission of copy number variations of uncertain significance in 105 trios
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2030
Abstract: The distribution and genetic characteristics of copy number variations (CNVs) remain unclear. Here, we investigated the distribution and transmission of CNVs of uncertain significance in fetuses. read more here.
Keywords: distribution transmission; number variations; uncertain significance; copy number ... See more keywords
Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing
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DOI: 10.1002/pd.5323
Abstract: There are concerns regarding the potential harms in receipt of prenatal chromosome microarray (CMA) results, particularly variants of uncertain significance (VUS). We examined the influence that the return of genomic results had on parental well‐being… read more here.
Keywords: variants uncertain; uncertain significance; prenatal chromosome; chromosome microarray ... See more keywords
Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
Sign Up to like & getrecommendations! Published in 2020 at "Legal medicine"
DOI: 10.1016/j.legalmed.2020.101712
Abstract: In many SCD cases, in particular in pediatric age, autopsy can be completely negative and then a post-mortem genetic testing (molecular autopsy) is indicated. In NGS era finding new/rare variants is extremely frequent and, when… read more here.
Keywords: death; cause death; uncertain significance; autopsy ... See more keywords
A variant of uncertain significance in SDHAF1, the succinate dehydrogenase chaperone protein, in an adult patient with spastic paraparesis and leukoencephalopathy.
Sign Up to like & getrecommendations! Published in 2021 at "Multiple sclerosis and related disorders"
DOI: 10.1016/j.msard.2021.103132
Abstract: Succinate dehydrogenase (SDH), or respiratory complex II, consists of four nuclear-encoded subunits. The chaperone protein succinate dehydrogenase assembly factor 1 (SDHAF1) plays an essential role in the assembly of SDH, and in the incorporation of… read more here.
Keywords: chaperone protein; uncertain significance; variant uncertain; sdhaf1 ... See more keywords
The known unknown: the challenges of genetic variants of uncertain significance in clinical practice
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Law and the Biosciences"
DOI: 10.1093/jlb/lsx038
Abstract: As genetic testing technology has advanced, allowing scientists to obtain much of the raw data from our DNA, their ability to interpret these data has struggled to keep up. The result is the ubiquity of… read more here.
Keywords: clinical practice; variants uncertain; uncertain significance; known unknown ... See more keywords
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
Sign Up to like & getrecommendations! Published in 2022 at "Journal of medical genetics"
DOI: 10.1101/2022.10.09.22280834
Abstract: ECHS1 is the causative gene for mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. While genetic analysis studies have diagnosed numerous cases with ECHS1 variants, the increasing number of variants of uncertain significance (VUS) in genetic diagnosis… read more here.
Keywords: echs1; strategic validation; validation; uncertain significance ... See more keywords
Approach to the patient with a variant of uncertain significance on genetic testing
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Endocrinology"
DOI: 10.1111/cen.14818
Abstract: Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider family, but is dependent on the accurate interpretation of test results. The processes of variant interpretation are by their… read more here.
Keywords: patient; uncertain significance; genetic testing; variant uncertain ... See more keywords