ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)

gnomAD frequency: 0.00002  dbSNP: rs750340477
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074752 SCV001240347 likely pathogenic Retinal dystrophy 2019-05-17 criteria provided, single submitter clinical testing
GeneDx RCV001584548 SCV001813727 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25356976, 27157150, 31047384)
Labcorp Genetics (formerly Invitae), Labcorp RCV001584548 SCV002308463 likely pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 304 of the PRPF31 protein (p.Arg304Cys). This variant is present in population databases (rs750340477, gnomAD 0.003%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 25356976, 31047384, 32037395). ClinVar contains an entry for this variant (Variation ID: 560488). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg304 amino acid residue in PRPF31. Other variant(s) that disrupt this residue have been observed in individuals with PRPF31-related conditions (Invitae), which suggests that this may be a clinically significant amino acid residue. 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678605 SCV000804690 uncertain significance Retinitis pigmentosa 11 2016-09-01 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001584548 SCV001920445 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001584548 SCV001952028 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001584548 SCV001971115 uncertain significance not provided no assertion criteria provided clinical testing

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