ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)

dbSNP: rs1555571916
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627431 SCV000748430 pathogenic not provided 2021-04-27 criteria provided, single submitter clinical testing Identified in a patient with Osteogenesis imperfecta referred for genetic testing at GeneDx and in published literature (Wang et al., 2009); Frameshift 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 19491628)
Invitae RCV000560922 SCV001221117 pathogenic Osteogenesis imperfecta type I 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 478914). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta (PMID: 19491628). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1166Valfs*73) 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 RCV002506380 SCV002808704 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 2022-03-03 criteria provided, single submitter clinical testing
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000560922 SCV000660442 pathogenic Osteogenesis imperfecta type I 2017-07-18 no assertion criteria provided clinical testing

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