Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Core Molecular Diagnostic Lab, |
RCV000722087 | SCV000852060 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2018-11-13 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000722087 | SCV001135353 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868917 | SCV002235627 | pathogenic | not provided | 2020-11-22 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with retinal disease (PMID: 25474345, 32307445, Invitae). ClinVar contains an entry for this variant (Variation ID: 590903). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 16 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). |