ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile)

gnomAD frequency: 0.00012  dbSNP: rs369750762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702837 SCV000831708 likely benign Atrial fibrillation, familial, 7 2023-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000702837 SCV000894792 uncertain significance Atrial fibrillation, familial, 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000994785 SCV001993874 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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