ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) (rs587779586)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory,University of Washington RCV000087537 SCV000120424 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
GeneDx RCV000423138 SCV000516827 pathogenic not provided 2015-05-06 criteria provided, single submitter clinical testing The G423D variant in the COL3A1 gene has been reported in a cohort of individuals with suspectedvascular-type EDS (Pepin et al., 2014). G423D results in a non-conservative amino acid substitution at aposition that is conserved across species. The G423D variant affects a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL3A1 gene, where the majority of missense variants occur(Stenson et al., 2014; Symoens et al., 2012). Furthermore, the G423D variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.Therefore, we consider this variant to be pathogenic.

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