ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.655G>A (p.Gly219Ser) (rs781493730)

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
Invitae RCV000205360 SCV000259918 uncertain significance Multiple endocrine neoplasia, type 1 2018-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 214 of the MEN1 protein (p.Gly214Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs781493730, ExAC 0.006%). This variant has not been reported in the literature in individuals with MEN1-related disease. This variant has been reported in individuals in the Universal Mutation Database (PMID: 12112656). ClinVar contains an entry for this variant (Variation ID: 219831). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.