Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003558422 | SCV004292514 | pathogenic | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Stargardt disease, inherited retinal dystrophy (PMID: 25312043, 32581362). ClinVar contains an entry for this variant (Variation ID: 438092). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1027*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). |
NIHR Bioresource Rare Diseases, |
RCV000504918 | SCV000598959 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2015-01-01 | no assertion criteria provided | research |