Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233383 | SCV001405973 | pathogenic | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant has been observed in individual(s) with dystrophic epidermolysis bullosa (PMID: 19681861). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val2752Glufs*35) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. |