ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) (rs587779635)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498865 SCV000589614 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing The G261D pathogenic variant in the COL3A1 gene has been reported in a patient with vascular EDS (Pepin et al., 2014). The G261D variant results in a non-conservative amino acid substitution at a position that is conserved across species. Additionally, this variant affects a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL3A1 gene, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Symoens et al., 2012). A variant in the same residue (G261S) has been published as a de novo variant in a patient with abdominal and coronary artery dissections (Lee et al., 2008), further supporting the importance of this residue. Furthermore, the G261D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Collagen Diagnostic Laboratory,University of Washington RCV000087605 SCV000120495 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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