Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Affairs, |
RCV001003319 | SCV001161403 | likely pathogenic | Farber lipogranulomatosis | 2019-06-18 | criteria provided, single submitter | literature only | Variant c.92G>T has been classified as likely pathogenic using the following rationale. Variant c.92G>T has been associated with 2 Farber disease patients from unrelated families published in separate scientific journal articles. In Saygi et al., 2015, doi.org/10.1016/S1090-3798(15)30391-3, a patient was diagnosed with severe Farber disease symptoms characteristic of Type 1 Farber disease described in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). The patient was homozygous for c.92G>T variants in the ASAH1 gene. A second juvenile patient in Cozma et al., 2018, DOI:10.1038/s41598-017-06604-2 was diagnosed with Farber disease characteristic of Type II-III Farber disease. The patient was homozygous for c.92G>T variants in the ASAH1 gene. Additional ceramide biomarker testing was completed in this patient along with 9 additional Farber disease patients and 2 SMA-PME patients demonstrating that C26:0 levels were significantly higher in Farber patients and SMA-PME patients compared to controls. |