ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) (rs863224973)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201004 SCV000255688 pathogenic X-linked hereditary motor and sensory neuropathy 2015-09-08 criteria provided, single submitter clinical testing
Invitae RCV001044069 SCV001207843 pathogenic Charcot-Marie-Tooth Neuropathy X 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 107 of the GJB1 protein (p.Arg107Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 8829637, 9272161, 10737979, 27544631). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217168). This variant has been reported to affect GJB1 protein function (PMID: 15006706). For these reasons, this variant has been classified as Pathogenic.

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