ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.204dup (p.Lys69fs)

dbSNP: rs118192188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV001851982 SCV002190662 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-08-04 criteria provided, single submitter clinical testing 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with benign familial neonatal seizures (PMID: 14985406). This variant is also known as K69fsX119. ClinVar contains an entry for this variant (Variation ID: 21776). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000678069 SCV000041628 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)

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