ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser)

dbSNP: rs587779631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520450 SCV000617609 pathogenic not provided 2020-07-28 criteria provided, single submitter clinical testing Has been reported in association with vascular EDS (Pepin et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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); Reported in ClinVar as pathogenic (ClinVar Variant ID# 101361; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 24922459)
Collagen Diagnostic Laboratory, University of Washington RCV000087599 SCV000120489 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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