ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)

gnomAD frequency: 0.00001  dbSNP: rs72651642
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000497565 SCV000341062 pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000497565 SCV000589583 pathogenic not provided 2019-07-05 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; Reported as pathogenic in ClinVar but additional evidence is not available; This variant is associated with the following publications: (PMID: 8808594, 28378289, 27510842)
Invitae RCV000358677 SCV000627195 pathogenic Osteogenesis imperfecta type I 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg697*) 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 present in population databases (rs72651642, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with osteogenesis imperfecta (PMID: 8808594, 21667357, 28378289). ClinVar contains an entry for this variant (Variation ID: 287320). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000763409 SCV000894138 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 2018-10-31 criteria provided, single submitter clinical testing
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

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