Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546229 | SCV000627155 | pathogenic | Osteogenesis imperfecta type I | 2017-03-23 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 2-23 and the first 37 nucleotides of exon 24 of the COL1A1 gene. The duplicated copy of this region is in tandem, and causes a frameshift at codon 551. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular duplication has not been reported in the literature, loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 9443882, 9295084, 7942841). For these reasons, this variant has been classified as Pathogenic. |