ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter)

dbSNP: rs1228746935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631482 SCV000752564 pathogenic Osteogenesis imperfecta type I 2017-11-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 with COL1A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln457*) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV001555220 SCV001776598 pathogenic not provided 2024-04-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37079061)

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