ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.859-2A>G

dbSNP: rs72645338
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063643 SCV001228500 pathogenic Osteogenesis imperfecta type I 2023-10-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the COL1A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individuals with osteogenesis imperfecta (PMID: 16879195; Invitae). ClinVar contains an entry for this variant (Variation ID: 857877). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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