ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp)

gnomAD frequency: 0.00001  dbSNP: rs760713282
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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 RCV000813685 SCV000954054 uncertain significance Hyperkalemic periodic paralysis 2024-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 898 of the SCN4A protein (p.Gly898Asp). This variant is present in population databases (rs760713282, gnomAD 0.02%). 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: 657127). 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 not expected to disrupt SCN4A protein function with a negative predictive value of 95%. 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.
GeneDx RCV001564405 SCV001787566 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV005004446 SCV002781074 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 2024-05-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001564405 SCV004237160 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing

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