ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)

dbSNP: rs2144576822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658929 SCV001874157 pathogenic not provided 2021-09-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); 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
Invitae RCV001882757 SCV002232668 pathogenic Osteogenesis imperfecta type I 2020-11-11 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of osteogenesis imperfecta (Invitae). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln393*) 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).
Fulgent Genetics, Fulgent Genetics RCV002495986 SCV002794366 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 2022-01-14 criteria provided, single submitter clinical testing

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