ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)

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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 RCV003806162 SCV004589504 likely pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-04-18 criteria provided, single submitter clinical testing This variant, c.2333_2335dup, results in the insertion of 1 amino acid(s) of the COL1A2 protein (p.Gly778dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with osteogenesis imperfecta (Invitae). In at least one individual the variant was observed to be de novo. 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.

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