Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000505160 | SCV001241136 | likely pathogenic | Retinal dystrophy | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000085646 | SCV001248241 | pathogenic | not provided | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085646 | SCV001388934 | pathogenic | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1513 of the ABCA4 protein (p.Gln1513Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinal disease (PMID: 28559085, 29925512; Invitae). 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: 99293). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Ocular Genomics Institute, |
RCV001376334 | SCV001573444 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-04-08 | criteria provided, single submitter | research | The ABCA4 c.4538A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM3, PS3. Based on this evidence we have classified this variant as Likely Pathogenic. |
Retina International | RCV000085646 | SCV000117785 | not provided | not provided | no assertion provided | not provided | ||
Eurofins Ntd Llc |
RCV000085646 | SCV000202090 | uncertain significance | not provided | 2013-12-17 | flagged submission | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000505160 | SCV000598980 | likely pathogenic | Retinal dystrophy | 2015-01-01 | no assertion criteria provided | research |