ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1127del (p.Pro376fs)

dbSNP: rs72645369
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065365 SCV001230321 pathogenic Osteogenesis imperfecta type I 2023-08-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro376Leufs*165) 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 is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with osteogenesis imperfecta type I (PMID: 8808594). ClinVar contains an entry for this variant (Variation ID: 859292).
Breda Genetics srl RCV001065365 SCV001519325 pathogenic Osteogenesis imperfecta type I 2021-02-26 criteria provided, single submitter clinical testing The variant c.1127delC (p.Pro376Leufs * 165) in the COL1A1 gene is reported as a pathogenic for osteogenesis imperfecta I in ClinVar (Variation ID: 859292). This variant creates a shift in the reading frame which is predicted to result in a premature stop codon 165 amino acids downstream, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). There is no frequency information in the gnomAD or 1000 Genomes Project databases.
GeneDx RCV001585970 SCV001818782 pathogenic not provided 2021-05-11 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); This variant is associated with the following publications: (PMID: 8808594, 23729740)
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326535 SCV003927897 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form 2023-04-01 no assertion criteria provided clinical testing

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