ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.332A>C (p.Gln111Pro) (rs1306924167)

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
Mendelics RCV000708808 SCV000837794 uncertain significance Familial medullary thyroid carcinoma 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001372807 SCV001569496 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-09-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 141 of the NTRK1 protein (p.Gln141Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NTRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584596). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NTRK1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.