ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.239-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448825 SCV004176587 likely pathogenic Retinitis pigmentosa 11 2023-02-14 criteria provided, single submitter clinical testing The splice acceptor c.239-1G>C variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The variant affects AG acceptor splice site upstream to exon 4. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing (Rio Frio et al., 2009). For these reasons, this variant has been classified as Likely Pathogenic.

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