ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1146+5G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818672 SCV005071152 likely pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
3billion RCV005254915 SCV005906233 likely pathogenic Retinitis pigmentosa 11 2024-02-25 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Intron variant: previously reported to alter splicing from an in vitro assay and reduce expression level of the gene (PMID: 36338669). In silico tools predict the variant to alter splicing and produce an abnormal transcript [SpliceAI: 0.39 (>=0.2, moderate evidence for spliceogenicity)]. Intron variant: previously reported to alter splicing from an in vitro assay and reduce expression level of the gene (PMID: 36338669). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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