ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val)

gnomAD frequency: 0.00004  dbSNP: rs777298727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713102 SCV000843672 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing
Invitae RCV001861984 SCV002145339 uncertain significance Hyperkalemic periodic paralysis 2023-08-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1291 of the SCN4A protein (p.Ile1291Val). This variant is present in population databases (rs777298727, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of congenital myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 586514). 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.

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