ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1430del (p.Pro477fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002880620 SCV003231819 pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro477Leufs*205) in the COL1A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A2 are known to be pathogenic (PMID: 11288717, 15077201).

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