ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys)

gnomAD frequency: 0.00004  dbSNP: rs369128679
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Total submissions: 4
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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, Revvity RCV003139713 SCV003818689 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003139713 SCV004224422 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing

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