Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201183 | SCV000255687 | pathogenic | Charcot-Marie-Tooth Neuropathy X Type 1 | 2013-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000691748 | SCV000819538 | pathogenic | Charcot-Marie-Tooth Neuropathy X | 2019-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 75 of the GJB1 protein (p.Arg75Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with X-linked Charcot-Marie-Tooth disease (CMTX) (PMID: 8829637, 9272161, 10093067, 12402337). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217167). This variant has been reported to affect GJB1 protein function (PMID: 12460545, 19369543, 23209285). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV001276388 | SCV001462644 | pathogenic | Charcot-Marie-Tooth disease | 2020-09-16 | no assertion criteria provided | clinical testing |