ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) (rs72651642)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Sciences,Uppsala University RCV000490669 SCV000574598 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form no assertion criteria provided clinical testing
Department of Medical Sciences,Uppsala University RCV000358677 SCV000574599 pathogenic Osteogenesis imperfecta type I no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000497565 SCV000341062 pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763409 SCV000894138 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
GeneDx RCV000497565 SCV000589583 pathogenic not provided 2017-06-05 criteria provided, single submitter clinical testing The R697X variant in the COL1A1 gene has been reported previously in association with osteogenesis imperfecta type 1 (Willing et al., 1996). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R697X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R697X as a pathogenic variant.
Invitae RCV000358677 SCV000627195 pathogenic Osteogenesis imperfecta type I 2018-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 697 (p.Arg697*) of 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. This particular variant has been reported in the literature in individuals with osteogenesis imperfecta (PMID: 8808594, 21667357, 28378289). For these reasons, this variant has been classified as Pathogenic.

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