ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)

dbSNP: rs1565652689
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 RCV000802906 SCV000942755 pathogenic Multiple endocrine neoplasia, type 1 2022-09-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 648226). 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 expected to disrupt MEN1 protein function. This variant disrupts the p.Gly42 amino acid residue in MEN1. Other variant(s) that disrupt this residue have been observed in individuals with MEN1-related conditions (PMID: 9463336, 28203045, 29066490), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with MEN1-related conditions (PMID: 11303512; Invitae). In at least one individual the variant was observed to be de novo. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 42 of the MEN1 protein (p.Gly42Ala). This variant is not present in population databases (gnomAD no frequency).

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.