Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000623577 | SCV000740559 | likely pathogenic | Loeys-Dietz syndrome | 2016-09-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004529910 | SCV004117915 | likely pathogenic | COL3A1-related disorder | 2022-11-14 | criteria provided, single submitter | clinical testing | The COL3A1 c.3472G>C variant is predicted to result in the amino acid substitution p.Gly1158Arg. This variant was reported in a study of individuals with vascular Ehlers-Danlos syndrome (EDS type IV) (Supplementary Table S1, Pepin et al. 2014. PubMed ID: 24922459). Of note, another variant impacting this same amino acid was also reported in the same study of individuals with vascular EDS [c.3473G>A (p.Gly1158Asp), Supplementary Table S1, Pepin et al. 2014. PubMed ID: 24922459]. The c.3472G>C variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. The majority of documented causative missense variants in COL3A1 substitute a glycine residue to another amino acid in the Gly-X-Y triple helical domain (Pepin et al. 2014. PubMed ID: 24922459). Taken together, we interpret this variant as likely pathogenic. |
Collagen Diagnostic Laboratory, |
RCV000087723 | SCV000120616 | pathogenic | Ehlers-Danlos syndrome, type 4 | no assertion criteria provided | clinical testing |