ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) (rs587779692)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000087690 SCV000835182 pathogenic Ehlers-Danlos syndrome, type 4 2018-06-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 420 of the COL3A1 protein (p.Gly420Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with COL3A1-related disease (PMID: 21086191, 24922459). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 101452). Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL3A1, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 24922459, 25758994) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.
Collagen Diagnostic Laboratory,University of Washington RCV000087690 SCV000120582 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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