ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.256dup (p.Thr86fs)

dbSNP: rs1336696568
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 RCV001003332 SCV001161417 pathogenic Farber lipogranulomatosis 2019-07-01 criteria provided, single submitter literature only Variant c.256_257InsA has been defined as pathogenic. The patient was diagnosed with severe Farber disease characteristic of Type 1 Farber disease as described by Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Histology of subcutaneous nodules showed the presence of foamy (lipid-filled) macrophages consistent with Farber disease. DNA sequencing revealed compound heterozygous ASAH1 variants, c.256_257insA and c.314T>C. Variant c.256_257insA resulting in protein termination at position 86. Truncation of the protein renders the acid ceramidase enzyme inactive.

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.