Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048222 | SCV001212214 | uncertain significance | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2019-07-15 | criteria provided, single submitter | clinical testing | This variant is a deletion of the genomic region encompassing part of exon 2 (c.193_254+849del) of the KCNT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in one or more individuals who were not affected with KCNT1-related disease (Invitae). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNT1 cause disease. 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. |