Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074056 | SCV001239624 | likely pathogenic | Retinal dystrophy | 2018-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085724 | SCV002757008 | pathogenic | not provided | 2022-11-03 | criteria provided, single submitter | clinical testing | Nonsense 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 10634594, 29925512) |
Invitae | RCV000085724 | SCV003523413 | pathogenic | not provided | 2022-11-01 | 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: 99370). This premature translational stop signal has been observed in individual(s) with Stargardt Disease (PMID: 10634594, 28355279, 29925512). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1779*) 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). |
Retina International | RCV000085724 | SCV000117864 | not provided | not provided | no assertion provided | not provided |