Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009024 | SCV001168834 | pathogenic | not provided | 2018-08-30 | criteria provided, single submitter | clinical testing | The c.1452_1453delCT pathogenic variant in the COL7A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1452_1453delCT variant causes a frameshift starting with codon Tyrosine 485, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 63 of the new reading frame, denoted p.Tyr485HisfsX63. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1452_1453delCT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1452_1453delCT as a pathogenic variant. |