Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599576 | SCV000710118 | likely pathogenic | not provided | 2017-11-10 | criteria provided, single submitter | clinical testing | The c.778_782delTATGGinsGGGA variant in the CNTNAP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.778_782delTATGGinsGGGA variant causes a frameshift starting with codon Tyrosine 260, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Tyr260GlyfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.778_782delTATGGinsGGGA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.778_782delTATGGinsGGGA as a likely pathogenic variant. |