Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000020280 | SCV004553048 | uncertain significance | Hyperkalemic periodic paralysis | 2023-08-10 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change does not substantially affect SCN4A function (PMID: 12766226). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN4A protein function. ClinVar contains an entry for this variant (Variation ID: 21161). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 246 of the SCN4A protein (p.Ser246Leu). |
Gene |
RCV000020280 | SCV000040635 | not provided | Hyperkalemic periodic paralysis | no assertion provided | literature only | ||
OMIM | RCV000201211 | SCV000255931 | pathogenic | Congenital myasthenic syndrome 16 | 2003-06-10 | no assertion criteria provided | literature only | |
Gene |
RCV000235040 | SCV000292414 | not provided | Congenital myasthenic syndrome | no assertion provided | literature only |