ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) (rs104894814)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654846 SCV000776748 uncertain significance Charcot-Marie-Tooth Neuropathy X 2017-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 220 of the GJB1 protein (p.Arg220Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Charcot-Marie-Tooth (CMT) disease, however in these individuals, a duplication of the PMP22 gene was also identified (PMID: 16401743). Experimental studies have shown that this missense change preserves normal sub-cellular protein localization (PMID: 12460545, 21280457,). 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.
Inherited Neuropathy Consortium RCV000789831 SCV000929215 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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