ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1729C>T (p.Arg577Ter) (rs767881978)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694606 SCV000823058 uncertain significance Atrial fibrillation, familial, 7 2018-04-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNA5 gene (p.Arg577*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 37 amino acids of the KCNA5 protein. This variant is present in population databases (rs767881978, ExAC 0.03%). This variant has not been reported in the literature in individuals with KCNA5-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNA5 cause disease. 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.

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