ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val)

gnomAD frequency: 0.00001  dbSNP: rs1465376529
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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 RCV000654658 SCV000776555 uncertain significance Hyperkalemic periodic paralysis 2023-08-25 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) has been performed at Invitae 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. ClinVar contains an entry for this variant (Variation ID: 543806). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1477 of the SCN4A protein (p.Met1477Val).
Fulgent Genetics, Fulgent Genetics RCV000764139 SCV000895124 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 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534210 SCV003735403 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.4429A>G (p.M1477V) 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 4429, causing the methionine (M) at amino acid position 1477 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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