Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV000296428 | SCV000281930 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000790718 | SCV000331903 | likely pathogenic | not provided | 2015-09-10 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000790718 | SCV001582797 | pathogenic | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1850 of the ABCA4 protein (p.Leu1850Pro). This variant is present in population databases (rs377311148, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of autosomal recessive Stargardt disease (PMID: 23755871, 28559085; 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: 197055). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCA4 protein function. For these reasons, this variant has been classified as Pathogenic. |
| Institute of Human Genetics, |
RCV004816288 | SCV005069933 | likely pathogenic | Retinal dystrophy | 2021-01-01 | criteria provided, single submitter | clinical testing |