ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)

dbSNP: rs758465935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248725 SCV001422231 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001773566 SCV002002683 uncertain significance not provided 2021-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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