Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038865 | SCV001202364 | uncertain significance | Charcot-Marie-Tooth Neuropathy X | 2019-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 41 of the GJB1 protein (p.Glu41Lys). 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 not been reported in the literature in individuals with GJB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 637133). 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"). 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 | RCV000789178 | SCV000928530 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |