ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)

dbSNP: rs1203106659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206187 SCV001377483 pathogenic Osteogenesis imperfecta type I 2022-10-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 937217). 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.Glu1273*) 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).
Baylor Genetics RCV001330772 SCV001522564 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form 2019-11-27 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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