Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000474369 | SCV000541763 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2016-12-11 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). This sequence change creates a premature translational stop signal at codon 1278 (p.Trp1278*) of the COL3A1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |