ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2397del (p.Gly800fs)

dbSNP: rs1906989648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213257 SCV001384879 pathogenic Osteogenesis imperfecta type I 2021-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of COL1A1-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly800Glufs*308) 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).

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