Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003800404 | SCV004589103 | pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-03-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 20 , but is expected to preserve the integrity of the reading-frame (PMID: 8005592). Studies have shown that disruption of this splice site alters COL1A2 gene expression (PMID: 8005592). This variant is also known as C instead of a G at the last nucleotide (+419) of intron 19 . Disruption of this splice site has been observed in individual(s) with autosomal dominant osteogenesis imperfecta (PMID: 8005592, 30886339; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 19 of the COL1A2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. |