ClinVar Miner

Submissions for variant NM_001061.7(TBXAS1):c.251G>T (p.Arg84Leu)

gnomAD frequency: 0.00004  dbSNP: rs193110720
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001039643 SCV001203180 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs193110720, gnomAD 0.2%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 85 of the TBXAS1 protein (p.Arg85Leu). This variant has not been reported in the literature in individuals affected with TBXAS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 838155). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Baylor Genetics RCV001335602 SCV001528785 uncertain significance Thromboxane synthetase deficiency 2018-02-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.