Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986365 | SCV001135351 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
DBGen Ocular Genomics | RCV000986365 | SCV001815960 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-05-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085520 | SCV002238984 | pathogenic | not provided | 2023-05-15 | 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: 7905). This premature translational stop signal has been observed in individual(s) with ABCA4-related conditions (PMID: 11385708, 23755871, 29847639, 31129250). This variant is present in population databases (rs61752410, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gly963Alafs*14) 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). |
OMIM | RCV000008363 | SCV000028571 | pathogenic | Cone-rod dystrophy 3 | 2007-03-01 | no assertion criteria provided | literature only | |
Retina International | RCV000085520 | SCV000117657 | not provided | not provided | no assertion provided | not provided |