Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408509 | SCV000281921 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073541 | SCV001239089 | pathogenic | Retinal dystrophy | 2019-05-22 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196916 | SCV001367550 | pathogenic | Age related macular degeneration 2 | 2018-10-24 | 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. This variant was detected in homozygous state. |
Invitae | RCV001383600 | SCV001582799 | pathogenic | not provided | 2023-08-15 | 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 alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 28118664). ClinVar contains an entry for this variant (Variation ID: 236128). Disruption of this splice site has been observed in individuals with Stargardt disease (PMID: 26593885, 28118664, 29925512). This variant is present in population databases (no rsID available, gnomAD 0.0008%). This sequence change affects a donor splice site in intron 37 of the ABCA4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). |
Sharon lab, |
RCV002267732 | SCV001160832 | pathogenic | Cone-rod dystrophy | 2019-06-23 | no assertion criteria provided | research |