ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.311G>A (p.Arg104His)

gnomAD frequency: 0.00001  dbSNP: rs578095133
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538023 SCV000626968 uncertain significance Hereditary insensitivity to pain with anhidrosis 2022-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 104 of the NTRK1 protein (p.Arg104His). This variant is present in population databases (rs578095133, gnomAD 0.01%). 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: 456617). 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.
CeGaT Center for Human Genetics Tuebingen RCV001726213 SCV001961142 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323917 SCV002607485 uncertain significance Inborn genetic diseases 2024-04-17 criteria provided, single submitter clinical testing The c.311G>A (p.R104H) alteration is located in exon 3 (coding exon 3) of the NTRK1 gene. This alteration results from a G to A substitution at nucleotide position 311, causing the arginine (R) at amino acid position 104 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000538023 SCV004048641 uncertain significance Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing
3billion RCV000538023 SCV005328952 likely benign Hereditary insensitivity to pain with anhidrosis 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Natera, Inc. RCV000538023 SCV002086510 uncertain significance Hereditary insensitivity to pain with anhidrosis 2019-11-11 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.