Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408571 | SCV000281888 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Molecular Genetics, |
RCV000408571 | SCV001548149 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854784 | SCV002143669 | pathogenic | not provided | 2023-09-03 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 29 of the ABCA4 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 (rs200967229, gnomAD 0.007%). Disruption of this splice site has been observed in individuals with clinical features of Stargardt disease (PMID: 20029649, 28118664, 29854428). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 236113). Studies have shown that disruption of this splice site results in skipping of exon 29, but is expected to preserve the integrity of the reading-frame (PMID: 28118664). For these reasons, this variant has been classified as Pathogenic. |
Dept Of Ophthalmology, |
RCV003888652 | SCV004707401 | likely pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |