Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
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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
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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 Here, we identified seven unpublished patients with FDXR deficiency belonging to six… read more here.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
Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
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DOI: 10.1002/jgc4.1560
Abstract: While genomic medicine is becoming an important part of patient care with an ever‐increasing diagnostic yield, communicating variants of uncertain clinical significance (VUSs) remains a major challenge. We draw on qualitative analysis of semi‐structured interviews… read more here.
Keywords: communication; significance; israeli healthcare; variants uncertain ... 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
Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations?
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DOI: 10.1080/09537104.2017.1371288
Abstract: Abstract Bernard–Soulier syndrome (BSS) is an autosomal recessive major thrombocytopathy, the symptoms of which are mainly marked by mucocutaneous bleeding. This rare disease, initially described in the 1970s, is the result of an abnormal formation… read more here.
Keywords: bernard soulier; variants uncertain; gp9; soulier syndrome ... See more keywords
The known unknown: the challenges of genetic variants of uncertain significance in clinical practice
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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
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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
Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers
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DOI: 10.1111/bjh.18419
Abstract: Germline pathogenic ATM (ataxia‐telangiectasia mutated) variants are associated with the risk of multiple cancers; however, genetic testing reveals a large number of ATM variants of uncertain significance (VUS). Here, we studied germline ATM variants occurring… read more here.
Keywords: vus; germline atm; atm variants; rare germline ... See more keywords
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation
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DOI: 10.1136/jmedgenet-2019-106368
Abstract: Since the identification and cloning of BRCA1 in 1994,1 and shortly thereafter of BRCA2 ,2 genetic tests of germline DNA to identify pathogenic variants in genes linked to hereditary breast and ovarian cancer (HBOC) have… read more here.
Keywords: variants uncertain; brca1 brca2; breast ovarian; ovarian cancer ... See more keywords
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
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DOI: 10.1136/jmedgenet-2021-108013
Abstract: Background Numerous variants of uncertain significance (VUSs) have been identified by whole exome sequencing in clinical practice. However, VUSs are not currently considered medically actionable. Objective To assess the splicing patterns of 49 VUSs in… read more here.
Keywords: rna splicing; splicing analysis; diagnosis; analysis ... See more keywords
Abstract 5236: Functional analysis of variants of uncertain significance of the MSH6 mismatch repair gene
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DOI: 10.1158/1538-7445.am2023-5236
Abstract: Lynch syndrome (LS) is a hereditary condition that increases patients’ lifetime risk of cancer, primarily colorectal cancer. LS is caused by germline mutations in mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2. Identification of… read more here.
Keywords: mismatch repair; msh6; significance; variants uncertain ... See more keywords