ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) (rs199794307)

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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 RCV000171655 SCV000050681 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000171655 SCV001148553 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000114990 SCV001498699 uncertain significance Atrial fibrillation, familial, 7 2020-03-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 305 of the KCNA5 protein (p.Ala305Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs199794307, ExAC 0.002%). This variant has been observed in individual(s) with atrial fibrillation (PMID: 23264583, 24144883). ClinVar contains an entry for this variant (Variation ID: 127136). This variant has been reported to affect KCNA5 protein function (PMID: 23264583, 28803858). 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.
OMIM RCV000114990 SCV000148899 pathogenic Atrial fibrillation, familial, 7 2013-05-01 no assertion criteria provided literature only

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