Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824550 | SCV000965452 | uncertain significance | Hyperkalemic periodic paralysis | 2022-02-03 | criteria provided, single submitter | clinical testing | 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: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 666125). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs565408498, gnomAD 0.04%). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 910 of the SCN4A protein (p.Asp910Val). 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. |
Revvity Omics, |
RCV003141862 | SCV003818769 | uncertain significance | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing |