ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1525G>C (p.Asp509His)

dbSNP: rs1035934237
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708819 SCV000837805 uncertain significance Familial medullary thyroid carcinoma 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388349 SCV002696937 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.1507G>C (p.D503H) alteration is located in exon 12 (coding exon 12) of the NTRK1 gene. This alteration results from a G to C substitution at nucleotide position 1507, causing the aspartic acid (D) at amino acid position 503 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001280007 SCV003252971 uncertain significance Hereditary insensitivity to pain with anhidrosis 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 503 of the NTRK1 protein (p.Asp503His). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NTRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584602). 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.
Genome-Nilou Lab RCV001280007 SCV004048733 uncertain significance Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280007 SCV001467151 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing

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.