Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193231 | SCV001361955 | likely pathogenic | Deficiency of ribose-5-phosphate isomerase | 2019-03-19 | criteria provided, single submitter | clinical testing | Variant summary: RPIA c.253G>A (p.Ala85Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 199172 control chromosomes (gnomAD). c.253G>A has been reported in the literature in a compound heterozygote individual affected with Ribose 5-phosphate isomerase deficiency who had elevated levels of arabinitol and ribitol (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 likely pathogenic. |