ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.355C>T (p.Arg119Trp)

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 Genetics Laboratory, West China Hospital, Sichuan University RCV001256188 SCV001423821 pathogenic Autosomal recessive axonal neuropathy with neuromyotonia criteria provided, single submitter research A homozygous missense variant of c.355C>T (p.His119Trp) was identified in the HINT1 gene in a patient affected with axonal neuropathy with neuromyotonia, which was confirmed as having been transmitted from the parents. The p.His119 site is highly conserved during evolution. The SIFT, Polyphen-2 and Provean softwares predict that the variant is damaging.

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.