ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)

dbSNP: rs145605739
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061541 SCV001226286 pathogenic not provided 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys270*) in the PDE6B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDE6B are known to be pathogenic (PMID: 8394174, 8595886, 22334370). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 9238087). ClinVar contains an entry for this variant (Variation ID: 856142). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075156 SCV001240768 pathogenic Retinal dystrophy 2018-10-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV004584422 SCV001761659 pathogenic See cases 2020-02-13 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724224 SCV001950314 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Cys270Ter variant in PDE6B 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: PVS1, PM2, PP1. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075156 SCV005072608 pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257887 SCV001434638 pathogenic Autosomal recessive retinitis pigmentosa 2012-10-26 no assertion criteria provided literature only

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