Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187949 | SCV000241552 | pathogenic | not provided | 2014-12-24 | criteria provided, single submitter | clinical testing | c.204dupC: p.Lys69GlnfsX51 (K69QfsX51) in exon 1 of the KCNQ2 gene (NM_172107.2). The normal sequence with the base that is duplicated in braces is: GCCCCC{C}AAGC.The c.204dupC mutation in the KCNQ2 gene has been reported previously in association with benign familial neonatal seizures (BFNS) (Richards et al., 2004). Of note, this study reports the mutation using alternative nomenclature (K69fsX119) due to numbering based on the long form of KCNQ2, which includes exon 10a. The duplication causes a frameshift starting with codon Lysine 69, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 51 of the new reading frame, denoted p.Lys69GlnfsX51. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSYV2-1 panel(s). |
Invitae | RCV001851982 | SCV002190662 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-08-04 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with benign familial neonatal seizures (PMID: 14985406). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 21776). This variant is also known as K69fsX119. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys69Glnfs*51) 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). |
Gene |
RCV000678069 | SCV000041628 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNE (benign familial neonatal epilepsy) |