ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)

gnomAD frequency: 0.00021  dbSNP: rs141281093
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000659136 SCV000527832 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28166811)
Labcorp Genetics (formerly Invitae), Labcorp RCV001088079 SCV000772488 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659136 SCV000780951 benign not provided 2024-04-01 criteria provided, single submitter clinical testing KCNT1: BP4, BS1, BS2
Ambry Genetics RCV002313096 SCV000848559 likely benign Inborn genetic diseases 2022-05-10 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000659136 SCV002011508 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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