ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr)

gnomAD frequency: 0.00001  dbSNP: rs963907287
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799097 SCV000938746 uncertain significance Hyperkalemic periodic paralysis 2023-03-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1823 of the SCN4A protein (p.Pro1823Thr). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SCN4A protein function. ClinVar contains an entry for this variant (Variation ID: 645079). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions.

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