Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003634844 | SCV004426330 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2023-06-23 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Ehlers-Danlos syndrome (Invitae). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met2*) 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). |