ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.637A>G (p.Ile213Val) (rs753503984)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622462 SCV000742508 uncertain significance Inborn genetic diseases 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000654834 SCV000776736 uncertain significance Charcot-Marie-Tooth Neuropathy X 2017-08-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 213 of the GJB1 protein (p.Ile213Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs753503984, ExAC 0.002%). This variant has not been reported in the literature in individuals with GJB1-related disease. Experimental studies have shown that this missense change is expressed similar to the wild-type, with punctate cell surface immunostaining and numerous gap junction-like plaques (PMID: 12460545). 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789057 SCV001336656 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789057 SCV000928406 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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