ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.304_306del (p.Glu102del) (rs1555937135)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541816 SCV000658907 pathogenic Charcot-Marie-Tooth Neuropathy X 2018-12-19 criteria provided, single submitter clinical testing This variant, c.304_306delGAG, results in the deletion of 1 amino acid of the GJB1 protein (p.Glu102del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate in several families affected with X-linked Charcot-Marie-Tooth disease (CMTX) (PMID: 12707076, Invitae). ClinVar contains an entry for this variant (Variation ID: 477594). Experimental studies have shown that this variant disrupts the formation of gap junction plaques (PMID: 28071741). This variant disrupts the p.Glu102 amino acid residue in GJB1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 8004109, 14627639, 17353473), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789859 SCV000929244 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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