Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003022385 | SCV003315608 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2023-07-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys50*) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2104015). For these reasons, this variant has been classified as Pathogenic. |