Total submissions: 2
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. |
Ce |
RCV003432696 | SCV004159002 | uncertain significance | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | KCNT1: PM4 |