ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp)

dbSNP: rs587779716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002284362 SCV002574617 pathogenic not provided 2022-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 (HGMD); This variant is associated with the following publications: (PMID: 30474650, 25758994, 30919682, 24922459, 23567233)
Collagen Diagnostic Laboratory, University of Washington RCV000087725 SCV000120618 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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