ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp)

dbSNP: rs1553509401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659426 SCV000781240 uncertain significance Ehlers-Danlos syndrome, type 4 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001541071 SCV001759026 pathogenic not provided 2020-10-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 547271; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Occurs in the triple helical domain and replaces the glycine in the canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (Stenson et al., 2014)

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