ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr)

gnomAD frequency: 0.00002  dbSNP: rs144421853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001457213 SCV001661012 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-15 criteria provided, single submitter clinical testing
GeneDx RCV003327471 SCV004034806 uncertain significance not provided 2023-03-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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