Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000085830 | SCV004292352 | pathogenic | not provided | 2023-02-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2190Argfs*57) 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). This premature translational stop signal has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 9295268). ClinVar contains an entry for this variant (Variation ID: 99469). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085830 | SCV000117973 | not provided | not provided | no assertion provided | not provided |