Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000085386 | SCV000564518 | pathogenic | not provided | 2021-04-14 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 28559085, 29925512, 25312043, 27820952, 23499370, 25472526, 10958763) |
Invitae | RCV000085386 | SCV001222219 | pathogenic | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp439*) 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 present in population databases (rs61752391, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Stargardt disease or retinitis pigmentosa (PMID: 25472526, 28559085). ClinVar contains an entry for this variant (Variation ID: 99043). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074256 | SCV001239829 | pathogenic | Retinal dystrophy | 2019-05-02 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085386 | SCV000117523 | not provided | not provided | no assertion provided | not provided |