ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=)

gnomAD frequency: 0.00014  dbSNP: rs765774534
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541512 SCV000652942 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001532660 SCV000718597 likely benign not provided 2019-06-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532660 SCV001748324 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270652 SCV002553655 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270653 SCV002553656 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324039 SCV002609805 likely benign Inborn genetic diseases 2019-02-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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