ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)

dbSNP: rs587779715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000623577 SCV000740559 likely pathogenic Loeys-Dietz syndrome 2016-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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, University of Washington RCV000087723 SCV000120616 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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