ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)

gnomAD frequency: 0.00028  dbSNP: rs369703217
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300386 SCV001489524 uncertain significance not provided 2024-07-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1026 of the ABCA4 protein (p.Phe1026Leu). This variant is present in population databases (rs369703217, gnomAD 0.08%). This missense change has been observed in individual(s) with clinical features or family history of ABCA4-related conditions (PMID: 17296903, 35120629; Invitae). ClinVar contains an entry for this variant (Variation ID: 1003784). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001300386 SCV001796896 uncertain significance not provided 2021-05-17 criteria provided, single submitter clinical testing Observed in a patient with retinal dystrophy in published literature (Downs et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17296903)
Fulgent Genetics, Fulgent Genetics RCV002486156 SCV002779411 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-08-31 criteria provided, single submitter clinical testing

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.