ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) (rs67879854)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516519 SCV000612897 pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763408 SCV000894137 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000707194 SCV000836280 pathogenic Osteogenesis imperfecta type I 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 788 of the COL1A1 protein (p.Gly788Ser). 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: 17078022, 27509835). ClinVar contains an entry for this variant (Variation ID: 447141). 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 COL1A1, 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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