ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) (rs121912925)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000018767 SCV000541791 pathogenic Ehlers-Danlos syndrome, type 4 2016-11-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 738 of the COL3A1 protein (p.Gly738Ser). 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 (rs121912925, ExAC no frequency). This variant has been reported in individuals and families affected with Ehlers-Danlos syndrome (PMID: 10051163, 24922459). This variant is also known as p.Gly571Ser in the literature. ClinVar contains an entry for this variant (Variation ID: 17227). Glycine residues within the triple helix region are important for fibrillar collagens structure and stability (PMID: 7695699, 19344236). In the case of COL3A1, the majority of the missense substitutions at the triple helix domain affect glycine residues (PMID: 24922459, 25758994). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018767 SCV000039050 pathogenic Ehlers-Danlos syndrome, type 4 1999-02-12 no assertion criteria provided literature only
Collagen Diagnostic Laboratory,University of Washington RCV000018767 SCV000120534 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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