ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.619G>A (p.Asp207Asn)

gnomAD frequency: 0.00001  dbSNP: rs757340322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042394 SCV001206072 uncertain significance Atrial fibrillation, familial, 7 2022-07-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 840414). This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. This variant is present in population databases (rs757340322, gnomAD 0.005%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 207 of the KCNA5 protein (p.Asp207Asn). 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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