ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.858+1G>A

dbSNP: rs61752899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388254 SCV001589174 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-10-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 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 individual(s) with autosomal recessive RPE65-related conditions (PMID: 9326941, 10090910). It has also been observed to segregate with disease in related individuals. This variant is also known as c.912+1G>A. ClinVar contains an entry for this variant (Variation ID: 98892). 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.
Retina International RCV000085223 SCV000117360 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250702 SCV001425577 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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