Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000547770 | SCV000627287 | pathogenic | Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I | 2017-06-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-4 of the COL1A2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the COL1A2 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with a COL1A2-related disease. Loss-of-function variants in COL1A2 are known to be pathogenic (PMID: 9099837, 3372533). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV001865691 | SCV002231938 | pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 1-4 of the COL1A2 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A2 are known to be pathogenic (PMID: 11288717, 15077201). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. For these reasons, this variant has been classified as Pathogenic. |