Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389283 | SCV001590590 | pathogenic | not provided | 2020-07-30 | criteria provided, single submitter | clinical testing | Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This sequence change creates a premature translational stop signal (p.Gln238*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with cone rod dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438107). For these reasons, this variant has been classified as Pathogenic. |
NIHR Bioresource Rare Diseases, |
RCV000505124 | SCV000599023 | likely pathogenic | Retinal dystrophy | 2015-01-01 | no assertion criteria provided | research |