ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.391G>C (p.Val131Leu)

gnomAD frequency: 0.00001  dbSNP: rs1689785051
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327321 SCV001518389 uncertain significance Chromosome 2q32-q33 deletion syndrome 2020-09-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 131 of the SATB2 protein (p.Val131Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant has not been reported in the literature in individuals with SATB2-related conditions. 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. This variant disrupts the p.Val131 amino acid residue in SATB2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29436146). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 SATB2 protein function.

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.