ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.433-2A>G

dbSNP: rs1554395471
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548758 SCV000627350 likely pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-04-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 of the COL1A2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in COL1A2 are known to be pathogenic (PMID: 8081389, 2454224, 16816023). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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