ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1917G>T (p.Gln639His)

gnomAD frequency: 0.00004  dbSNP: rs375403086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065881 SCV001230869 uncertain significance Hyperkalemic periodic paralysis 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 639 of the SCN4A protein (p.Gln639His). This variant is present in population databases (rs375403086, gnomAD 0.006%). 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: 859712). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV003142015 SCV003821242 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021408 SCV005651803 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 2024-06-06 criteria provided, single submitter clinical testing

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