ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.164G>A (p.Arg55Gln)

gnomAD frequency: 0.00002  dbSNP: rs376523210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059084 SCV001223690 uncertain significance Hyperkalemic periodic paralysis 2023-07-30 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. 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. ClinVar contains an entry for this variant (Variation ID: 854115). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs376523210, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 55 of the SCN4A protein (p.Arg55Gln).
Fulgent Genetics, Fulgent Genetics RCV005029640 SCV005650945 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-04-07 criteria provided, single submitter clinical testing

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