ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)

gnomAD frequency: 0.00001  dbSNP: rs61752406
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408572 SCV000281845 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000085488 SCV000484493 pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000085488 SCV000511887 pathogenic not provided 2025-01-15 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35120629, 31964843, 32307445, 35076026, 10958763, 31429209, 12192456, 22247458, 27939946, 29701254, 28118664, 23891399, 17982420, 26593885, 26551331, 29925512, 29386879, 32467599, 38219857)
Labcorp Genetics (formerly Invitae), Labcorp RCV000085488 SCV001219878 pathogenic not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp855*) 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 (rs61752406, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with ABCA4-related disease (PMID: 12192456, 17982420, 25312043, 28118664). ClinVar contains an entry for this variant (Variation ID: 99144). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073601 SCV001239152 pathogenic Retinal dystrophy 2019-07-12 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001073601 SCV005068507 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085488 SCV000117625 not provided not provided no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.