ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.772A>G (p.Met258Val)

gnomAD frequency: 0.00001  dbSNP: rs200074373
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 RCV001208286 SCV001379665 uncertain significance Chromosome 2q32-q33 deletion syndrome 2022-10-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 938971). 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. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt SATB2 protein function. This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is present in population databases (rs200074373, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 258 of the SATB2 protein (p.Met258Val).

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.