ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg)

gnomAD frequency: 0.00015  dbSNP: rs199581373
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
GeneDx RCV001776627 SCV002013327 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276890 SCV002566219 uncertain significance Ehlers-Danlos syndrome 2020-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422843 SCV002724515 uncertain significance Cardiovascular phenotype 2024-05-23 criteria provided, single submitter clinical testing The p.Q70R variant (also known as c.209A>G), located in coding exon 1 of the TNXB gene, results from an A to G substitution at nucleotide position 209. The glutamine at codon 70 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489825 SCV002793592 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-12-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001776627 SCV005412123 uncertain significance not provided 2024-05-20 criteria provided, single submitter 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.