ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.611C>T (p.Ala204Val)

gnomAD frequency: 0.00018  dbSNP: rs199859508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548415 SCV000658604 uncertain significance Hyperkalemic periodic paralysis 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 204 of the SCN4A protein (p.Ala204Val). This variant is present in population databases (rs199859508, gnomAD 0.08%). 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: 477430). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV005004248 SCV002778432 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 2024-04-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139865 SCV003821295 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003139865 SCV005412809 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing PP3_moderate

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