ClinVar Miner

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

gnomAD frequency: 0.00088  dbSNP: rs77281462
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Total submissions: 6
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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 2024-01-21 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 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24068186)
Clinical Genetics, Academic Medical Center RCV000171652 SCV001920552 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000171652 SCV001962816 likely benign not provided no assertion criteria provided clinical testing

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