Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413419 | SCV000490483 | pathogenic | not provided | 2015-04-07 | criteria provided, single submitter | clinical testing | The c.2223_2226dupTGGA pathogenic variant in the COL7A1 gene has been reported previously, as c.2226insTGGA, in association with recessive DEB (Abu Sa'ad et al., 2006). The duplication causes a frameshift starting with codon Leucine 743, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position seven of the new reading frame, denoted p.Leu743TrpfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret c.2223_2226dupTGGA to be a pathogenic variant. |