Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003555973 | SCV004292477 | pathogenic | not provided | 2023-11-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg409Glyfs*3) 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 variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinal dystrophy (PMID: 16546111). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7906). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000008364 | SCV000028572 | pathogenic | Retinal dystrophy, early-onset severe | 2006-05-01 | no assertion criteria provided | literature only |