ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) (rs121908591)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000295612 SCV000340743 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing
Invitae RCV000014412 SCV000812911 uncertain significance Atrial fibrillation, familial, 7 2019-05-09 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 527 of the KCNA5 protein (p.Thr527Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs121908591, ExAC 0.3%). This variant has been reported to segregate with atrial fibrillation in two families and has been reported in other individuals affected with this condition (PMID: 19343045, 26129877, 20646426). ClinVar contains an entry for this variant (Variation ID: 13470). Experimental studies have shown that this missense change disrupts channel function (PMID: 26129877, 20646426). 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 RCV000014412 SCV000034661 pathogenic Atrial fibrillation, familial, 7 2009-05-01 no assertion criteria provided literature only

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