Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627575 | SCV000748575 | likely pathogenic | not provided | 2018-04-13 | criteria provided, single submitter | clinical testing | The c.1178delT variant in the KCNQ2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1178delT variant causes a frameshift starting with codon Leucine 393, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu393ArgfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1178delT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1178delT as a likely pathogenic variant. |