ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1516-1G>A (rs72648352)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560259 SCV000627179 likely pathogenic Osteogenesis imperfecta type I 2017-10-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 22 of the COL1A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a COL1A1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 9443882, 9295084, 7942841). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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