Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Centre for Mendelian Genomics, |
RCV000415308 | SCV000492992 | likely pathogenic | Reduced tendon reflexes; Hammertoe; Achilles tendon contracture; Distal sensory impairment; Talipes cavus equinovarus; Progressive distal muscular atrophy; Progressive distal muscle weakness; Pain | 2014-05-16 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000797143 | SCV000936686 | pathogenic | Charcot-Marie-Tooth Neuropathy X | 2021-03-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in several individuals affected with X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) (PMID: 16096811, 21291455, 28448691, 22243284) and has been observed to segregate with CMTX1 in multiple families (PMID: 16096811, 21291455). ClinVar contains an entry for this variant (Variation ID: 374173). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 37 of the GJB1 protein (p.Val37Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. |
| Athena Diagnostics Inc | RCV000991852 | SCV001143678 | uncertain significance | not provided | 2019-05-31 | criteria provided, single submitter | clinical testing | |
| Inherited Neuropathy Consortium | RCV000789238 | SCV000928590 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |