ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.999-2A>G

dbSNP: rs1753232409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073306 SCV001238844 likely pathogenic Retinal dystrophy 2018-11-08 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268816 SCV001448006 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001268816 SCV002251357 likely pathogenic not provided 2022-11-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 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 not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 865804). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002505661 SCV002810461 likely pathogenic Retinitis pigmentosa 43 2021-10-10 criteria provided, single submitter clinical testing

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