ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) (rs1426533412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654853 SCV000776755 uncertain significance Charcot-Marie-Tooth Neuropathy X 2019-05-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 224 of the GJB1 protein (p.Arg224Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GJB1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791131 SCV000930405 uncertain significance X-linked hereditary motor and sensory neuropathy 2019-04-27 criteria provided, single submitter clinical testing

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