Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486517 | SCV000572734 | pathogenic | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | The novel c.1977_1989del13 pathogenic variant in the CNTNAP2 gene causes a frameshift starting with codon Valine 660, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Val660PhefsX9. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the c.1977_1989del13 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |