ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.595A>C (p.Ser199Arg)

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
Ambry Genetics RCV003216124 SCV003909178 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.595A>C (p.S199R) alteration is located in exon 7 (coding exon 5) of the TBL1XR1 gene. This alteration results from a A to C substitution at nucleotide position 595, causing the serine (S) at amino acid position 199 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003592006 SCV004332885 uncertain significance Pierpont syndrome 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 199 of the TBL1XR1 protein (p.Ser199Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2494686). 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 TBL1XR1 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.