Total submissions: 3
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. |
Inherited Neuropathy Consortium | RCV000789848 | SCV000929233 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |