Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Affairs, |
RCV001003336 | SCV001161421 | likely pathogenic | Farber lipogranulomatosis | 2019-07-01 | criteria provided, single submitter | literature only | Variant c.917+5G>A is likely pathogenic based on the following rationale. Variant c.917+5G>A has been identified in patient described in Ehlert et al., 2017, DOI: 10.1002/jimd.12043. The patient has been diagnosed with Farber disease characteristic of Type 5 Farber disease described in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). The variant results in the production of both mutant and wild type transcripts. The patient underwent a HCST which is the only available treatment option for Farber disease. As expected, the subcutaneous granulomas resolved with few subluxations remaining. |