ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)

gnomAD frequency: 0.00001  dbSNP: rs587777879
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174164 SCV001337285 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001857486 SCV002298554 uncertain significance Charcot-Marie-Tooth Neuropathy X 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 264 of the GJB1 protein (p.Arg264Cys). This variant is present in population databases (rs587777879, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 12402337, 25802885, 28768847, 33105617). ClinVar contains an entry for this variant (Variation ID: 155727). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000143796 SCV002788591 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2021-10-26 criteria provided, single submitter clinical testing
GeneDx RCV003327372 SCV004034727 likely benign not provided 2023-09-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143796 SCV000188688 pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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