Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069428 | SCV001234592 | uncertain significance | Charcot-Marie-Tooth Neuropathy X | 2019-05-11 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 35 of the GJB1 protein (p.Val35Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with CMTX (PMID: 21692908, 9361298, 9818870). This variant has been reported to have conflicting or insufficient data to determine the effect on GJB1 protein function (PMID: 9354338, 15006706, 12460545). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Inherited Neuropathy Consortium | RCV000789832 | SCV000929216 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |