Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001172395 | SCV001386815 | pathogenic | Leber congenital amaurosis 4 | 2024-01-07 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 2 of the AIPL1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs140808549, gnomAD 0.009%). Disruption of this splice site has been observed in individuals with clinical features of Leber congenital amaurosis (PMID: 10873396, 22412862, 29178642; Invitae). ClinVar contains an entry for this variant (Variation ID: 99798). Studies have shown that disruption of this splice site results in skipping of 3, but is expected to preserve the integrity of the reading-frame (PMID: 26650897). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000086221 | SCV000118366 | not provided | not provided | no assertion provided | not provided | ||
Laboratory of Genetics in Ophthalmology, |
RCV001172395 | SCV001335456 | pathogenic | Leber congenital amaurosis 4 | no assertion criteria provided | research |