ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) (rs144879674)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646136 SCV000767893 likely benign Atrial fibrillation, familial, 7 2020-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000646136 SCV001474433 uncertain significance Atrial fibrillation, familial, 7 2019-09-15 criteria provided, single submitter clinical testing The KCNA5 c.213_245del, p.Asp72_Pro82del variant (rs144879674) is reported in the literature in two probands affected with atrial fibrillation as well as three affected relatives (Yang 2010). This variant results in an in-frame deletion of 11 residues that encompass a predicted Src SH2 domain binding motif and functional analysis demonstrated that this variant reduces channel activity; however, the clinical relevance of this observation is unknown. (Yang 2010). This variant is reported in ClinVar (Variation ID: 537316) and is found in the general population with an overall allele frequency of 0.079% (147/185,166 alleles) and a South Asian allele frequency of 0.24% in the Genome Aggregation Database. Due to limited information, the clinical significance of this variant is uncertain at this time.
GeneDx RCV001571532 SCV001796030 likely benign not provided 2020-12-09 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 32577384, 20638934, 32397294)

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