ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4930G>A (p.Val1644Met)

dbSNP: rs775486265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654646 SCV000776541 uncertain significance Hyperkalemic periodic paralysis 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1644 of the SCN4A protein (p.Val1644Met). This variant is present in population databases (rs775486265, gnomAD 0.002%). 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: 543796). 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. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252195 SCV002523905 uncertain significance See cases 2020-12-07 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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