ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter)

dbSNP: rs1907672538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197453 SCV001368198 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form 2019-05-30 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
Invitae RCV002560234 SCV003200624 pathogenic Osteogenesis imperfecta type I 2022-06-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu243*) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). This variant has not been reported in the literature in individuals affected with COL1A1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 931153).

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