ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys)

dbSNP: rs1911322255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199515 SCV001162611 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001199515 SCV001950343 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Arg1935Cys variant in PRPF8 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.

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