ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) (rs72659319)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000722167 SCV000854605 pathogenic Osteogenesis imperfecta 2018-11-18 no assertion criteria provided clinical testing
Department of Medical Sciences,Uppsala University RCV000490657 SCV000574658 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763176 SCV000893767 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000631523 SCV000752605 pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1012 of the COL1A2 protein (p.Gly1012Ser). 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 reported in several individuals affected with osteogenesis imperfecta (PMID: 8094076, 16705691, 22589248, 25450603, 27519266). ClinVar contains an entry for this variant (Variation ID: 216908). This variant has also been reported as p.Gly922Ser. 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.
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000664407 SCV000708297 likely pathogenic Osteogenesis imperfecta, recessive perinatal lethal 2017-09-04 criteria provided, single submitter clinical testing The mutation of c.3034G>A p.(Gly1012Ser) is de novo.
UCLA Clinical Genomics Center, UCLA RCV000197038 SCV000255348 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III 2013-11-05 criteria provided, single submitter clinical testing

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