ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)

dbSNP: rs1791913210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066906 SCV001231929 pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2019-04-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 430 of the COL1A2 protein (p.Gly430Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with osteogenesis imperfecta (Invitae). 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 COL1A2, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 9016532, 17078022) compared to the general population (ExAC) For these reasons, this variant has been classified as Pathogenic.

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