Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000541816 | SCV000658907 | pathogenic | Charcot-Marie-Tooth Neuropathy X | 2018-12-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. Experimental studies have shown that this variant disrupts the formation of gap junction plaques (PMID: 28071741). 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). This variant is not present in population databases (ExAC no frequency). 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. |
| OMIM | RCV000011193 | SCV000031420 | pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1 | 2003-04-01 | no assertion criteria provided | literature only | |
| Inherited Neuropathy Consortium | RCV000789859 | SCV000929244 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
| Inherited Neuropathy Consortium Ii, |
RCV000011193 | SCV004174734 | uncertain significance | Charcot-Marie-Tooth disease X-linked dominant 1 | 2016-01-06 | no assertion criteria provided | literature only |