ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu)

gnomAD frequency: 0.00001  dbSNP: rs766760741
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626122 SCV000746749 uncertain significance IFAP syndrome 1, with or without BRESHECK syndrome 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767837 SCV004686431 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 177 of the MBTPS2 protein (p.Ile177Leu). This variant is present in population databases (rs766760741, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with MBTPS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 522925). 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 MBTPS2 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.