Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186071 | SCV000239042 | pathogenic | not provided | 2014-08-29 | criteria provided, single submitter | clinical testing | The c.562_563delGG mutation in the OTC gene has been reported previously in association with OTC deficiency (Shchelochkov et al., 2009). The deletion causes a frameshift starting with codon Glycine 188, changes this amino acid to a Serine residue and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Gly188SerfsX36. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in OTC panel(s). |