ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del)

dbSNP: rs1588989947
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 RCV001003329 SCV001161414 pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.290_292delTGG is pathogenic based on the following rationale. The patient described Muramatsu et al., 2002, DOI: 10.1023/A:1022047408477 was diagnosed with an intermediate form of Farber disease consistent with Type 2-3 Farber disease discussed in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Homozygous c.290_292delTGG variants were identified in the ASAH1 gene. To characterize the effect of the mutation V96del on acid ceramidase (AC) activity, modified human AC cDNA was transiently expressed in COS-1 cells; the mutant AC activities were decreased to 37% of the wild-type value explaining the intermediate Farber disease phenotype and the variant's likely pathogenicity.

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.