Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001637979 | SCV002044433 | likely pathogenic | Benign concentric annular macular dystrophy | 2021-12-09 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1, PS4_SUP |
Invitae | RCV002538519 | SCV003439499 | pathogenic | not provided | 2023-06-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1240018). Disruption of this splice site has been observed in individuals with autosomal dominant retinitis pigmentosa and/or vitelliform macular dystrophy (PMID: 23993198, 32817297). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs770887047, gnomAD 0.003%). This sequence change affects a donor splice site in intron 13 of the IMPG1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IMPG1 cause disease. |
Ophthalmic Genetics Group, |
RCV003324567 | SCV004030415 | pathogenic | Retinitis pigmentosa | 2023-07-24 | criteria provided, single submitter | research | Clinical significance based on ACMG v2.0 |
OMIM | RCV001637979 | SCV001852751 | pathogenic | Benign concentric annular macular dystrophy | 2021-09-10 | no assertion criteria provided | literature only | |
OMIM | RCV001637980 | SCV001852752 | pathogenic | Vitelliform macular dystrophy 4 | 2021-09-10 | no assertion criteria provided | literature only |