ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys)

gnomAD frequency: 0.00001  dbSNP: rs1459930316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650628 SCV000772475 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2017-12-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the additional amino acids is currently unknown. This variant has not been reported in the literature in individuals with KCNT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the KCNT1 mRNA. It is expected to extend the length of the KCNT1 protein by 30 additional amino acid residues.
CeGaT Center for Human Genetics Tuebingen RCV003432696 SCV004159002 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing KCNT1: PM4

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