Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Affairs, |
RCV001003322 | SCV001161406 | likely pathogenic | Farber lipogranulomatosis | 2019-06-19 | criteria provided, single submitter | literature only | Variant c.770T>C has been designated as a variant of uncertain significance. This variant has been identified in a patient diagnosed with Farber disease characteristic of the Type 3 Farber disease phenotype discussed in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). It was revealed through gene sequencing the patient has homozygous L257P (c.770T>C) variants in the ASAH1 gene. Fibroblast cultures showed highly elevated levels of undegraded ceramide compared with normal controls. |