ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2404-17del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003044474 SCV003352370 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-09-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 2130316). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. This variant is present in population databases (rs769478947, gnomAD 0.002%). This sequence change falls in intron 39 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein.

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