Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408483 | SCV000281789 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085454 | SCV000329043 | pathogenic | not provided | 2021-10-20 | criteria provided, single submitter | clinical testing | Identified in other unrelated patients with ABCA4-related disorders in published literature (Briggs et al., 2001; Maia-Lopes et al., 2009); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 19365591, 28118664, 11527935, 24265693, 29925512, 31456290) |
Institute of Medical Molecular Genetics, |
RCV000408483 | SCV001548067 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085454 | SCV001587238 | pathogenic | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the ABCA4 mRNA. The next in-frame methionine is located at codon 61. This variant is present in population databases (rs201738997, gnomAD 0.01%). Disruption of the initiator codon has been observed in individuals with Stargardt disease (PMID: 28118664, 29925512). ClinVar contains an entry for this variant (Variation ID: 99110). For these reasons, this variant has been classified as Pathogenic. |
Kariminejad - |
RCV001814056 | SCV001755292 | likely pathogenic | Abnormality of the eye | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085454 | SCV000117591 | not provided | not provided | no assertion provided | not provided |