Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002402 | SCV001160330 | uncertain significance | Retinitis pigmentosa 11 | 2019-02-22 | criteria provided, single submitter | clinical testing | The PRPF31 c.935C>T; p.Thr312Ile variant (rs144322132), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is found in the Latino population with an allele frequency 0.02% (7/35196 alleles) in the Genome Aggregation Database. The threonine at this position is moderately conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Due to limited information, the clinical significance of the variant is uncertain at this time. |
Labcorp Genetics |
RCV001860515 | SCV002271130 | uncertain significance | not provided | 2024-12-04 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 312 of the PRPF31 protein (p.Thr312Ile). This variant is present in population databases (rs144322132, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PRPF31-related conditions. ClinVar contains an entry for this variant (Variation ID: 811919). 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 tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |