Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008057 | SCV001167790 | pathogenic | not provided | 2018-12-06 | criteria provided, single submitter | clinical testing | The c.6351delGinsAT 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.6351delGinsAT variant changes codon Glutamic acid 2118 to a stop codon, denoted p.Glu2118Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6351delGinsAT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.6351delGinsAT as a pathogenic variant. |