Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408491 | SCV000281835 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000085440 | SCV001245787 | pathogenic | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Molecular Genetics, |
RCV000408491 | SCV001548025 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085440 | SCV004292531 | pathogenic | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln635*) 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 ABCA4-related conditions (PMID: 10958763, 28559085, 29555955, 32531858). ClinVar contains an entry for this variant (Variation ID: 99096). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085440 | SCV000117577 | not provided | not provided | no assertion provided | not provided |