ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1105_1112del (p.Phe369fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003089227 SCV003021074 uncertain significance Atrial fibrillation, familial, 7 2022-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe369Profs*87) in the KCNA5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 245 amino acid(s) of the KCNA5 protein. 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 and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%).
Department of Legal Medicine, University of Toyama RCV002305648 SCV002506992 pathogenic Third degree atrioventricular block 2022-05-06 no assertion criteria provided clinical testing

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