Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408512 | SCV000281841 | pathogenic | Stargardt disease 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085458 | SCV000490370 | pathogenic | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | The R681X nonsense variant in the ABCA4 gene has previously been reported in association with Stargardt disease and cone-rod dystrophy (Maugeri et al., 1999; Jaakson et al., 2003; Cideciyan et al., 2009) and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic. |
Blueprint Genetics | RCV001073628 | SCV001239179 | pathogenic | Retinal dystrophy | 2019-07-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000085458 | SCV001245781 | pathogenic | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001195987 | SCV001366414 | pathogenic | Age-related macular degeneration 2 | 2019-08-21 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5. |
Invitae | RCV000085458 | SCV001393043 | pathogenic | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg681*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61749423, ExAC 0.006%). This variant has been observed in many individuals and a family affected with retinal disease (PMID: 25544989, 28041643, 28559085, 10090887). ClinVar contains an entry for this variant (Variation ID: 99114). Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085458 | SCV000117595 | not provided | not provided | no assertion provided | not provided | ||
Centre for Genomic Medicine, |
RCV000210310 | SCV000259074 | likely pathogenic | Bull's eye maculopathy | 2015-01-19 | no assertion criteria provided | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000504983 | SCV000598948 | pathogenic | Leber congenital amaurosis | 2015-01-01 | no assertion criteria provided | research |