ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1651A>G (p.Met551Val) (rs121964870)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000013105 SCV001215361 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-05-16 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 581 of the NTRK1 protein (p.Met581Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hereditary sensory and autonomic neuropathy in a family (PMID: 0233776). ClinVar contains an entry for this variant (Variation ID: 12312). This variant has been reported to affect NTRK1 protein function (PMID: 12406349). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013105 SCV000033352 pathogenic Hereditary insensitivity to pain with anhidrosis 2002-10-01 no assertion criteria provided literature only

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.