ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)

dbSNP: rs72648326
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516899 SCV000612892 pathogenic not provided 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000490754 SCV000627165 pathogenic Osteogenesis imperfecta type I 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg415*) 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 premature translational stop signal has been observed in individuals with osteogenesis imperfecta, type 1 (PMID: 8613526, 8808594, 15024745, 25944380, 27132807). ClinVar contains an entry for this variant (Variation ID: 425597). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002475959 SCV000894141 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 2021-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000516899 SCV001168430 pathogenic not provided 2022-05-16 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); This variant is associated with the following publications: (PMID: 31447884, 27132807, 15741671, 8613526, 22679784, 8808594, 27748872, 31414283, 31363794, 15024745, 25944380, 27535533, 31794058, 32166892, 33939306)
Institute of Human Genetics, University of Leipzig Medical Center RCV001262344 SCV001440169 pathogenic Infantile cortical hyperostosis 2019-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000516899 SCV003826955 pathogenic not provided 2022-12-02 criteria provided, single submitter clinical testing
3billion RCV003313958 SCV004013734 pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000425597 / PMID: 8808594). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Department of Medical Sciences, Uppsala University RCV000490754 SCV000574589 pathogenic Osteogenesis imperfecta type I no assertion criteria provided clinical testing

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