ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.726-2A>C

dbSNP: rs878853372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003765455 SCV004569679 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-11-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the RPE65 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), and loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 9843205, 18632300). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with autosomal recessive RPE65-related conditions (PMID: 27208204, 29178642, 33308271). ClinVar contains an entry for this variant (Variation ID: 236480). 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.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225374 SCV000282586 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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