ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu)

gnomAD frequency: 0.00001  dbSNP: rs745492332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437040 SCV000536336 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity Omics RCV000437040 SCV003818724 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing
Invitae RCV003615839 SCV004540175 uncertain significance Familial hyperkalemic periodic paralysis 2023-05-17 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. 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) performed at Invitae indicates that this missense variant is expected to disrupt SCN4A protein function. ClinVar contains an entry for this variant (Variation ID: 392988). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 782 of the SCN4A protein (p.Phe782Leu).

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