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
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