ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1282C>T (p.Gln428Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348558 SCV001542864 uncertain significance Atrial fibrillation, familial, 7 2020-08-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNA5 gene (p.Gln428*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 186 amino acids of the KCNA5 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNA5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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