ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.640C>T (p.Arg214Cys)

gnomAD frequency: 0.00011  dbSNP: rs3197074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819168 SCV000959814 uncertain significance Atrial fibrillation, familial, 7 2023-07-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 214 of the KCNA5 protein (p.Arg214Cys). This variant is present in population databases (rs3197074, gnomAD 0.05%). 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: 661693). 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 not expected to disrupt KCNA5 protein function. 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 RCV001565818 SCV001789240 uncertain significance not provided 2023-05-19 criteria provided, single submitter clinical testing Reported in a male infant with sudden death who harbored multiple cardiogenetic variants (Campuzano et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30086531)

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