ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2786dup (p.Ala931fs)

dbSNP: rs1598289247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009182 SCV001169000 pathogenic not provided 2021-03-29 criteria provided, single submitter clinical testing Frameshift 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003631173 SCV004457400 pathogenic Osteogenesis imperfecta type I 2023-04-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL1A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala931Cysfs*10) 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). ClinVar contains an entry for this variant (Variation ID: 817949). For these reasons, this variant has been classified as Pathogenic.

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