Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000518946 | SCV000618377 | likely pathogenic | not provided | 2017-04-03 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the KCNQ2 gene. The Y95X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y95X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y95X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Invitae | RCV001384184 | SCV001583571 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-12-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). This variant has not been reported in the literature in individuals with KCNQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 449910). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Tyr95*) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. |