Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380606 | SCV001578726 | pathogenic | not provided | 2020-08-21 | 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 recessive dystrophic epidermolysis bullosa (PMID: 12813757). This variant is also known as c.8245insC. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly2749Argfs*41) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. |