Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201004 | SCV000255688 | pathogenic | Charcot-Marie-Tooth Neuropathy X Type 1 | 2015-09-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001044069 | SCV001207843 | pathogenic | Charcot-Marie-Tooth Neuropathy X | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 107 of the GJB1 protein (p.Arg107Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 8829637, 9272161, 10737979, 27544631). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217168). This variant has been reported to affect GJB1 protein function (PMID: 15006706). For these reasons, this variant has been classified as Pathogenic. |