Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Foundation for Research in Genetics and Endocrinology, |
RCV000999644 | SCV001135000 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2019-12-02 | criteria provided, single submitter | clinical testing | A homozygous single base pair deletion in exon 34 of the ABCA4 gene that results in a frameshift and premature truncation of the protein 49 amino acids downstream to codon 1613 was detected. The observed variant has been previously reported in patients affected with Stargardt disease (Jaakson et al. 2003). The observed variant has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across mammals. In summary, this variant meets our criteria to be classified as pathogenic. |
| Blueprint Genetics | RCV001074975 | SCV001240583 | likely pathogenic | Retinal dystrophy | 2017-11-06 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000085676 | SCV003523386 | pathogenic | not provided | 2022-05-25 | 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: 99323). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1613Alafs*49) 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). |
| Retina International | RCV000085676 | SCV000117816 | not provided | not provided | no assertion provided | not provided |