ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)

gnomAD frequency: 0.00016  dbSNP: rs140517911
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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 RCV001226884 SCV001399212 uncertain significance Hyperkalemic periodic paralysis 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1507 of the SCN4A protein (p.Val1507Ile). This variant is present in population databases (rs140517911, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of SCN4A-related conditions (PMID: 31127727). ClinVar contains an entry for this variant (Variation ID: 954431). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Fulgent Genetics, Fulgent Genetics RCV002480746 SCV002785481 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 2021-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001573063 SCV003821264 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573063 SCV001798386 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573063 SCV001958928 likely benign not provided no assertion criteria provided clinical testing

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