Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408536 | SCV000281890 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085636 | SCV000511897 | pathogenic | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | 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: 11328725, 21911583, 30093795, 23143460, 11527935, 17932850, 9973280, 18285826, 28118664, 25412400, 22247458, 28559085, 31129250, 31456290, 32845050, 32036094) |
Mendelics | RCV000408536 | SCV001135340 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085636 | SCV001205168 | pathogenic | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1486 of the ABCA4 protein (p.Pro1486Leu). This variant is present in population databases (rs61750145, gnomAD 0.07%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 18285826, 22247458, 23755871, 28559085, 30093795). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99283). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074852 | SCV001240453 | pathogenic | Retinal dystrophy | 2019-07-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000085636 | SCV001248245 | pathogenic | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198562 | SCV001369551 | pathogenic | Age related macular degeneration 2 | 2019-12-02 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP2,PM3,PS1. |
Institute of Medical Genetics and Applied Genomics, |
RCV000085636 | SCV001448014 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000408536 | SCV001521356 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2020-08-01 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV002498456 | SCV002811043 | pathogenic | Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085636 | SCV000117775 | not provided | not provided | no assertion provided | not provided | ||
Sharon lab, |
RCV001002829 | SCV001160846 | pathogenic | Stargardt disease | 2019-06-23 | no assertion criteria provided | research |