ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.751-2A>G (rs193922158)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029583 SCV000052235 likely pathogenic Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000798967 SCV000938612 likely pathogenic Osteogenesis imperfecta type I 2018-08-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 of the COL1A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with features of osteogenesis imperfecta type 1 (PMID: 25963598). ClinVar contains an entry for this variant (Variation ID: 35928). Donor and acceptor splice site variants 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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