ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3099+1G>A (rs1555572316)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598951 SCV000710019 likely pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing The c.3099+1 G>A variant has been reported in a patient presenting with blue sclerae, one fracture, and a positive family history of osteogenesis imperfecta (Schleit et al., 2015). The c.3099+1 G>A variant is not observed in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.3099+1 G>A destroys the canonical splice donor site for intron 42, leading to abnormal gene splicing potentially resulting in the skipping of the in-frame exon 42. Exon 42 is located in the triple helical domain and variants in this region result in poor winding of the collagen triple helix and a less functional protein. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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