ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys)

gnomAD frequency: 0.00001  dbSNP: rs762756953
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Affairs, Dicerna Pharmaceuticals RCV001003313 SCV001161397 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.538G>A is likely pathogenic. The patient described in Bashyam et al., 2014, doi: 10.1111/cge.12316 was diagnosed with Farber disease characteristic of Type 1 Farber disease discussed in Gene Reviews ( Patient was compound heterozygous in the ASAH1 gene for variants, c.383-16_383-12delTTTTC and c.538G>A inherited from her patients and demonstrating biparental segregation. Protein structural analysis was predicted using HANSA software. Variant c.538G>A substitution is predicted to result in abolishing H-bonds that alters the catalytic site structure of the acid ceramidase enzyme.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.