ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) (rs1555937270)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518825 SCV000613495 pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV000805747 SCV000945715 pathogenic Charcot-Marie-Tooth Neuropathy X 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 208 of the GJB1 protein (p.Glu208Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with X-linked Charcot-Marie-Tooth disease (CMT) and has been reported to segregate with CMT in families (PMID: 8162049, 10737979, 14960772, 17646144, 25429913, 28448691). ClinVar contains an entry for this variant (Variation ID: 447439). This variant has been reported to affect GJB1 protein function (PMID: 9364054, 9592087, 10848620, 15006706). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000518825 SCV001500644 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789848 SCV000929233 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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