ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)

dbSNP: rs193922144
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029562 SCV000052214 likely pathogenic Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV001575593 SCV001802624 pathogenic not provided 2025-02-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001575593 SCV005413263 likely pathogenic not provided 2024-03-11 criteria provided, single submitter clinical testing PM2, PVS1
Fulgent Genetics, Fulgent Genetics RCV005016298 SCV005649554 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2024-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005055525 SCV005718442 pathogenic Osteogenesis imperfecta type I 2024-03-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln688*) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL1A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 35907). For these reasons, this variant has been classified as Pathogenic.

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