ClinVar Miner

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

gnomAD frequency: 0.00007  dbSNP: rs199794307
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Total submissions: 5
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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 Center for Human Genetics 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 2023-01-21 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects KCNA5 function (PMID: 23264583, 28803858). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 127136). This missense change has been observed in individual(s) with atrial fibrillation (PMID: 23264583, 24144883). This variant is present in population databases (rs199794307, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 305 of the KCNA5 protein (p.Ala305Thr).
Fulgent Genetics, Fulgent Genetics RCV000114990 SCV002782321 uncertain significance Atrial fibrillation, familial, 7 2022-03-01 criteria provided, single submitter clinical testing
OMIM RCV000114990 SCV000148899 pathogenic Atrial fibrillation, familial, 7 2013-05-01 no assertion criteria provided literature only

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