Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074966 | SCV001240573 | pathogenic | Retinal dystrophy | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001235213 | SCV001407889 | pathogenic | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438096). This premature translational stop signal has been observed in individuals with ABCA4-related retinal dystrophies (PMID: 19028736, 20696155). It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln1513Argfs*13) 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). |
Gene |
RCV001235213 | SCV001758720 | pathogenic | not provided | 2019-12-08 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32581362, 32467599, 19959634, 23755871, 20696155, 28041643, 20960624) |
NIHR Bioresource Rare Diseases, |
RCV000505070 | SCV000598977 | pathogenic | Macular dystrophy | 2015-01-01 | no assertion criteria provided | research |