ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln)

gnomAD frequency: 0.00004  dbSNP: rs772546656
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483033 SCV000565531 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001323820 SCV001514752 uncertain significance Hyperkalemic periodic paralysis 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 38 of the SCN4A protein (p.Arg38Gln). This variant is present in population databases (rs772546656, gnomAD 0.02%). 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: 418478). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SCN4A protein function with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV002496852 SCV002803900 uncertain significance Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2021-11-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000483033 SCV003818723 uncertain significance not provided 2020-07-10 criteria provided, single submitter clinical testing

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