Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002296872 | SCV002597369 | uncertain significance | not provided | 2022-08-02 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with PRPF31-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 215 of the PRPF31 protein (p.Ile215Thr). |
| Ambry Genetics | RCV003097891 | SCV003603420 | uncertain significance | Inborn genetic diseases | 2022-01-27 | criteria provided, single submitter | clinical testing | The c.644T>C (p.I215T) alteration is located in exon 7 (coding exon 6) of the PRPF31 gene. This alteration results from a T to C substitution at nucleotide position 644, causing the isoleucine (I) at amino acid position 215 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV002296872 | SCV004030952 | uncertain significance | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |