Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Affairs, |
RCV001003318 | SCV001161402 | likely pathogenic | Farber lipogranulomatosis | 2019-06-19 | criteria provided, single submitter | literature only | Variant c.1084C>A is likely pathogenic for the following reasons. Two siblings described in Bashyam et al., 2014, doi: 10.1111/cge.12316 were diagnosed with Farber disease characteristic of Type 1 Farber disease discussed in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Compound heterozygous variants in the ASAH1 gene, c.677G>C and c.1084C>A, were identified and biparental segregation was noted. Structural analysis was predicted to be pathogenic when analyzing variant, c.1084C>A, using HANSA software. Disruption of backbone rigidity maintained by Proline is predicted resulting in pathogenicity of the variant. |