ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter) (rs745920419)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814042 SCV000954434 uncertain significance Atrial fibrillation, familial, 7 2019-05-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNA5 gene (p.Glu208*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 406 amino acids of the KCNA5 protein. This variant is present in population databases (rs745920419, ExAC 0.002%). This variant has been observed in several individuals affected with pulmonary hypertension, one of whom was also affected with sarcoidosis (PMID: 24950668, 24936649). 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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