ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser)

dbSNP: rs2144550235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002221173 SCV002498569 likely pathogenic Osteogenesis imperfecta 2022-04-01 criteria provided, single submitter clinical testing This variant was found in clinical testing. The variant affects a Glycine residue in the lelical domain of collagen I and it is predicted to be pathogenic by all prediction tools available. The variant was found de novo. ACMG criteria: PS2, PM2, PP2, PP3

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