ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1926+1G>A

dbSNP: rs794727139
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174847 SCV000226226 pathogenic not provided 2015-02-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199499 SCV001162570 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000174847 SCV001245887 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376192 SCV001573244 pathogenic Retinitis pigmentosa 43 2021-04-08 criteria provided, single submitter research The PDE6A c.1926+1G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM1. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000174847 SCV002969607 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 15 of the PDE6A 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 PDE6A are known to be pathogenic (PMID: 7493036, 22128245, 23847139). This variant is present in population databases (rs794727139, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 33057649). ClinVar contains an entry for this variant (Variation ID: 194473). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816264 SCV005070026 pathogenic Retinal dystrophy 2012-01-01 criteria provided, single submitter clinical testing

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