Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487744 | SCV000575077 | likely pathogenic | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199518 | SCV001162614 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research | |
Institute of Medical Genetics and Applied Genomics, |
RCV000487744 | SCV001447015 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV001376216 | SCV001573283 | likely pathogenic | Retinitis pigmentosa 13 | 2021-04-08 | criteria provided, single submitter | research | The PRPF8 c.6970dup variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |
Invitae | RCV000487744 | SCV003230706 | uncertain significance | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 425117). This variant has not been reported in the literature in individuals affected with PRPF8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the PRPF8 gene (p.Glu2324Glyfs*61). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 12 amino acid(s) of the PRPF8 protein and extend the protein by 48 additional amino acid residues. 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. |