ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs745920419
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Total submissions: 2
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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 2022-06-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 657442). 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. This premature translational stop signal has been observed in individual(s) with pulmonary hypertension and/or sarcoidosis (PMID: 24936649, 24950668). This variant is present in population databases (rs745920419, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu208*) in the KCNA5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 406 amino acid(s) of the KCNA5 protein.
AiLife Diagnostics, AiLife Diagnostics RCV002223949 SCV002502863 likely pathogenic not provided 2022-01-29 criteria provided, single submitter clinical testing

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