ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.497A>C (p.Asp166Ala)

gnomAD frequency: 0.00016  dbSNP: rs748629738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646126 SCV000767883 uncertain significance Atrial fibrillation, familial, 7 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 166 of the KCNA5 protein (p.Asp166Ala). This variant is present in population databases (rs748629738, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 537306). 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 expected to disrupt KCNA5 protein function with a positive predictive value of 80%. 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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