ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.1824+1G>A

dbSNP: rs770887047
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center 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, Institute of Molecular and Clinical Ophthalmology Basel 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

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