ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1667del (p.Pro556fs)

dbSNP: rs1351742344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001931651 SCV002203117 pathogenic Osteogenesis imperfecta type I 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro556Leufs*24) 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 individual(s) with osteogenesis imperfecta types I and IV (PMID: 26627451, 28725987). ClinVar contains an entry for this variant (Variation ID: 1431093). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001931651 SCV002577543 pathogenic Osteogenesis imperfecta type I 2021-01-13 criteria provided, single submitter clinical testing PVS1, PM2, PP3
Fulgent Genetics, Fulgent Genetics RCV002503654 SCV002813597 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2022-03-16 criteria provided, single submitter clinical testing

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