Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002240232 | SCV001217140 | pathogenic | Ehlers-Danlos syndrome, classic type, 1 | 2019-03-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). This variant has been observed in an individual affected with Ehlers-Danlos syndrome (PMID: 28714197). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln89*) in the COL5A1 gene. It is expected to result in an absent or disrupted protein product. |