ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2172del (p.Gly725fs) (rs1567757138)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000735822 SCV000938189 pathogenic Osteogenesis imperfecta type I 2018-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly725Alafs*41) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL1A1-related disease. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). For these reasons, this variant has been classified as Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000735822 SCV000863539 pathogenic Osteogenesis imperfecta type I 2018-12-10 no assertion criteria provided clinical testing The observed variant NM_000088.3: c.2172delT (p.Gly725AlafsTer41) in exon-32 of COL1A1 gene has not been reported in the 1000 Genomes and ExAC databases. The in-silico prediction of variant is damaging by MutationTaster2.

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