Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408546 | SCV000281839 | likely pathogenic | Stargardt disease 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000085452 | SCV000574771 | pathogenic | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763047 | SCV000893528 | likely pathogenic | Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085452 | SCV001202188 | pathogenic | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 653 of the ABCA4 protein (p.Arg653Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs61749420, ExAC 0.002%). This variant has been observed in several individuals affected with Stargardt disease, and was observed to segregate with cone rod dystrophy in a family (PMID: 28559085, 23776498). ClinVar contains an entry for this variant (Variation ID: 99108). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Arg653 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9466990, 10413692, 19074458). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074668 | SCV001240260 | pathogenic | Retinal dystrophy | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000085452 | SCV001446861 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085452 | SCV000117589 | not provided | not provided | no assertion provided | not provided |