ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1503+1G>A

dbSNP: rs1554396615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241155 SCV001394966 likely pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2019-07-28 criteria provided, single submitter clinical testing 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL1A2 are known to be pathogenic (PMID: 2993307, 3372533, 6092353, 11288717, 15077201, 16816023, 27510842). This variant has been observed in an individual affected with clinical features of osteogenesis imperfecta (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 25 of the COL1A2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276665 SCV002564774 likely pathogenic Osteogenesis imperfecta 2019-01-01 criteria provided, single submitter clinical testing

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