ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) (rs77281462)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171652 SCV000055198 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000646137 SCV000767894 likely benign Atrial fibrillation, familial, 7 2020-11-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000646137 SCV001160347 uncertain significance Atrial fibrillation, familial, 7 2019-03-14 criteria provided, single submitter clinical testing The KCNA5 c.634C>T; p.Arg212Cys variant (rs77281462) is reported in the literature in a cohort of individuals not selected for a history of arrhythmia, cardiomyopathy, or a family history of sudden cardiac death (Ng 2013). This variant is reported in ClinVar (Variation ID: 191460) and is found in the African population with an overall allele frequency of 0.18% (46/24940 alleles, including one homozygote) in the Genome Aggregation Database. The arginine at codon 212 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Arg212Cys variant is uncertain at this time. References: Ng D et al. Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013 Aug;6(4):337-46.
GeneDx RCV000171652 SCV001791581 likely benign not provided 2020-01-08 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 24068186)

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