ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile)

gnomAD frequency: 0.00003  dbSNP: rs369929462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818336 SCV000958943 uncertain significance Familial hyperkalemic periodic paralysis 2024-01-15 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 1414 of the SCN4A protein (p.Val1414Ile). This variant is present in population databases (rs369929462, 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: 661013). 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 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.
Revvity Omics, Revvity Omics RCV003141845 SCV003821314 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing

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