Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009104 | SCV001168914 | likely pathogenic | not provided | 2018-10-16 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the CNTNAP2 gene. The c.2569_2572delTCCTinsCCC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2569_2572delTCCTinsCCC variant causes a frameshift starting with codon Serine 857, changes this amino acid to a Proline residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Ser857ProfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2569_2572delTCCTinsCCC variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |