ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His)

gnomAD frequency: 0.00003  dbSNP: rs924313348
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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 RCV002017646 SCV002298116 uncertain significance Hyperkalemic periodic paralysis 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 1124 of the SCN4A protein (p.Pro1124His). This variant is present in population databases (no rsID available, 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: 1509093). 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) indicates that this missense variant is expected to disrupt SCN4A protein function with a positive predictive value of 80%. 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 RCV002492352 SCV002782054 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 2021-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003312036 SCV004009831 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing SCN4A: PM1

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