ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)

dbSNP: rs1792147522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239310 SCV001204317 pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2019-03-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). This variant has been observed in individuals affected with osteogenesis imperfecta (PMID: 27509835). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 769 of the COL1A2 protein (p.Gly769Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.
Mendelics RCV002249643 SCV002518740 pathogenic Osteogenesis imperfecta, perinatal lethal 2022-05-04 criteria provided, single submitter clinical testing

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