Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001972628 | SCV002238360 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2021-06-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly987*) in the COL3A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL3A1-related conditions. For these reasons, this variant has been classified as Pathogenic. |