ClinVar

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRPF31 protein in which other variant(s) (Deletion (Exon 14) ) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PRPF31-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 6-14 of the PRPF31 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.