ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2452-1G>A

dbSNP: rs72651667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067208 SCV001232254 pathogenic Osteogenesis imperfecta type I 2023-11-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 35 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: 15241796; Invitae). ClinVar contains an entry for this variant (Variation ID: 860827). 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.
GeneDx RCV003325541 SCV004031549 pathogenic not provided 2023-03-02 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele 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: 25525159, 15241796, 25963598)

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