Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009150 | SCV001168965 | pathogenic | not provided | 2018-12-17 | criteria provided, single submitter | clinical testing | The c.1080_1083delGCAG pathogenic variant in the KCNQ2 gene causes a frameshift starting with codon Tryptophan 360, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Trp360CysfsX28. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1080_1083delGCAG variant is not observed in large population cohorts (Lek et al., 2016). |