ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.403_405del (p.Leu135del)

dbSNP: rs1451178605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001371081 SCV001567635 uncertain significance Atrial fibrillation, familial, 7 2022-03-19 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1061491). 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 0.007%). This variant, c.403_405del, results in the deletion of 1 amino acid(s) of the KCNA5 protein (p.Leu135del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV001371081 SCV002781529 uncertain significance Atrial fibrillation, familial, 7 2021-10-04 criteria provided, single submitter clinical testing

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