Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517020 | SCV000615076 | uncertain significance | not specified | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001202732 | SCV001373857 | uncertain significance | Hyperkalemic periodic paralysis | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 986 of the SCN4A protein (p.Glu986Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. ClinVar contains an entry for this variant (Variation ID: 448268). 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 not expected to disrupt SCN4A protein function. 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, |
RCV003139713 | SCV003818689 | uncertain significance | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003139713 | SCV004224422 | uncertain significance | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing |