ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1278A>C (p.Glu426Asp)

dbSNP: rs775219160
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 RCV001238456 SCV001411268 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-07-10 criteria provided, single submitter clinical testing 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 performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt SATB2 function. ClinVar contains an entry for this variant (Variation ID: 964267). This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is present in population databases (rs775219160, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 426 of the SATB2 protein (p.Glu426Asp).

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.