ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5587-1G>C (rs968692633)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073923 SCV001239488 pathogenic Retinal dystrophy 2018-06-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090823 SCV001246564 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001244155 SCV001417357 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-11-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 40 of the CEP290 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another CEP290 variant in individuals affected with Joubert syndrome, Leber congenital amaurosis or retinitis pigmentosa (PMID: 17345604, 28559085, 29178642). ClinVar contains an entry for this variant (Variation ID: 636006). 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 CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090823 SCV001446874 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787560 SCV000926536 pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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