ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1199G>A (p.Arg400Gln)

gnomAD frequency: 0.00004  dbSNP: rs914933506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309969 SCV001499486 uncertain significance Atrial fibrillation, familial, 7 2023-09-01 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) 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 KCNA5 protein function. ClinVar contains an entry for this variant (Variation ID: 1012073). This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 400 of the KCNA5 protein (p.Arg400Gln).

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