ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)

gnomAD frequency: 0.00006  dbSNP: rs373669288
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000199306 SCV000253649 likely benign Multiple endocrine neoplasia, type 1 2025-01-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400551 SCV000373089 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311483 SCV000373090 uncertain significance Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566719 SCV000673641 likely benign Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003917813 SCV004732867 likely benign MEN1-related disorder 2020-07-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.