ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2674-3T>G

dbSNP: rs72659303
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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 RCV001036610 SCV001199983 pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2019-04-01 criteria provided, single submitter clinical testing This sequence change falls in intron 41 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with osteogenesis imperfecta type 2 (PMID: 17078022, Invitae), of which it has been observed de novo in at least one individual (Invitae). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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