ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val)

gnomAD frequency: 0.00001  dbSNP: rs748620733
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235435 SCV001408120 uncertain significance Hyperkalemic periodic paralysis 2022-03-03 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 961699). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs748620733, gnomAD 0.05%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1468 of the SCN4A protein (p.Ile1468Val).
Fulgent Genetics, Fulgent Genetics RCV002484289 SCV002790665 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 2022-01-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142202 SCV003818755 uncertain significance not provided 2021-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033283 SCV004944263 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.4402A>G (p.I1468V) alteration is located in exon 24 (coding exon 24) of the SCN4A gene. This alteration results from a A to G substitution at nucleotide position 4402, causing the isoleucine (I) at amino acid position 1468 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796383 SCV005416380 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 criteria provided, single submitter clinical testing PM2

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