Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003764609 | SCV004569804 | pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 9 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with autosomal dominant COL1A2-related conditions (PMID: 10694924, 31794058; Invitae). ClinVar contains an entry for this variant (Variation ID: 17269). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 9, but is expected to preserve the integrity of the reading-frame (PMID: 10694924). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000018810 | SCV000039093 | pathogenic | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 2020-12-10 | no assertion criteria provided | literature only |