ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)

dbSNP: rs72658174
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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 RCV001203350 SCV001374511 pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2019-09-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 739 of the COL1A2 protein (p.Gly739Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) affected with osteogenesis imperfecta (PMID: 17078022, 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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