Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008677 | SCV001168456 | pathogenic | not provided | 2019-02-05 | criteria provided, single submitter | clinical testing | The Y347X nonsense variant in the KCNQ2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y347X variant is not observed in large population cohorts (Lek et al., 2016). |
Invitae | RCV003753165 | SCV004449343 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-07-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr347*) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with seizures (PMID: 31069529). ClinVar contains an entry for this variant (Variation ID: 817529). For these reasons, this variant has been classified as Pathogenic. |