ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.95-2A>T (rs61751279)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668398 SCV000792991 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000668398 SCV001219454 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-12-31 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the RPE65 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs61751279, ExAC 0.001%). This variant has been observed to segregate with retinitis pigmentosa in a family and has also been observed in individuals affected with RPE65-related conditions (PMID: 17724218, 21151602, 15024725). ClinVar contains an entry for this variant (Variation ID: 98899). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants 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, 18632300). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074560 SCV001240151 pathogenic Retinal dystrophy 2018-12-18 criteria provided, single submitter clinical testing
Retina International RCV000085232 SCV000117369 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003189 SCV001161266 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001250674 SCV001425544 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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