Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090767 | SCV001246479 | pathogenic | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090767 | SCV003525687 | pathogenic | not provided | 2023-06-30 | 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 10, but is expected to preserve the integrity of the reading-frame (PMID: 17722006). ClinVar contains an entry for this variant (Variation ID: 871022). This variant is also known as c.1230+1G>A in NM_130837.2. Disruption of this splice site has been observed in individuals with autosomal dominant optic atrophy (PMID: 15948788, 17722006, 27860320; 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 a donor splice site in intron 10 of the OPA1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. |