ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1620+1G>A

gnomAD frequency: 0.00001  dbSNP: rs781377291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073345 SCV001238885 likely pathogenic Retinal dystrophy 2018-12-12 criteria provided, single submitter clinical testing
Invitae RCV001229110 SCV001401546 pathogenic not provided 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 636054). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 26806561, 30718709). This variant is present in population databases (rs781377291, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 12 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).
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787638 SCV000926623 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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