ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn)

gnomAD frequency: 0.00001  dbSNP: rs540950122
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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 RCV001040707 SCV001204296 uncertain significance Hyperkalemic periodic paralysis 2023-07-19 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 839033). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs540950122, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1630 of the SCN4A protein (p.Asp1630Asn).
Fulgent Genetics, Fulgent Genetics RCV002479262 SCV002780914 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 2022-05-07 criteria provided, single submitter clinical testing

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