Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000596804 | SCV000707272 | pathogenic | not provided | 2017-04-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000596804 | SCV001168827 | pathogenic | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | The c.144delC pathogenic variant in the KCNQ2 gene causes a frameshift starting with codon Lysine 49, changes this amino acid to a Serine residue and creates a premature Stop codon at position 84 of the new reading frame, denoted p.Lys49SerfsX84. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.144delC variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of a KCNQ2-related disorder in this individual. |
| Invitae | RCV001860201 | SCV002187935 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-07-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 501059). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys49Serfs*84) 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). |