Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193230 | SCV001361954 | pathogenic | Deficiency of ribose-5-phosphate isomerase | 2019-03-19 | criteria provided, single submitter | clinical testing | Variant summary: RPIA c.347-1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: five predicts the variant abolishes a 3' splicing acceptor site. The variant was absent in 246204 control chromosomes (gnomAD). c.347-1G>A has been reported in the literature in a compound heterozygous individual affected with Ribose 5-phosphate isomerase deficiency, who had significant elevations of ribitol and arabitol (>20x), consistent with this diagnosis (Brooks 2018). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |