ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1588G>A (p.Glu530Lys)

dbSNP: rs915470188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052766 SCV001216991 uncertain significance Atrial fibrillation, familial, 7 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 530 of the KCNA5 protein (p.Glu530Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNA5-related conditions. 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"). 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.
GeneDx RCV001772262 SCV002002398 uncertain significance not provided 2020-07-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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