Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001860463 | SCV002135382 | pathogenic | not provided | 2023-10-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1523*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 31318848). ClinVar contains an entry for this variant (Variation ID: 522465). For these reasons, this variant has been classified as Pathogenic. |
MGZ Medical Genetics Center | RCV002289913 | SCV002581781 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2022-08-11 | criteria provided, single submitter | clinical testing | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625606 | SCV000746106 | pathogenic | Cone-rod dystrophy 3 | 2017-09-18 | no assertion criteria provided | clinical testing |