ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu)

gnomAD frequency: 0.00006  dbSNP: rs201908490
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002549569 SCV001129658 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2020-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000981675 SCV001155837 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing KCNT1: BS1
Ambry Genetics RCV002550565 SCV003695918 likely benign Inborn genetic diseases 2022-08-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003962950 SCV004786046 likely benign KCNT1-related disorder 2023-04-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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