ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=)

gnomAD frequency: 0.00009  dbSNP: rs201120894
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542537 SCV000652939 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000609638 SCV000718079 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV002270650 SCV002553616 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270651 SCV002553617 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431103 SCV004158988 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing KCNT1: BP4, BP7

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