ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.793C>T (p.Gln265Ter) (rs104894266)

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
Ambry Genetics RCV000491298 SCV000579753 pathogenic Hereditary cancer-predisposing syndrome 2016-01-27 criteria provided, single submitter clinical testing The p.Q260* pathogenic mutation (also known as c.778C>T), located in coding exon 3 of the MEN1 gene, results from a C to T substitution at nucleotide position 778. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This mutation was identified in a sporadic MEN1 patient diagnosed with multiple parathyroid tumors, a prolactin-secreting pituitary macroadenoma, and Zollinger-Ellison syndrome, (Agarwal, SK et al. Hum Mol Genet. 1997 Jul;6(7):1169-75), and in a familial MEN1 patient from Japan (Shimizu, S et al. Jpn J Cancer Res. 1997 Nov;88(11):1029-32). ​ In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
OMIM RCV000018170 SCV000038449 pathogenic Multiple endocrine neoplasia, type 1 1997-07-01 no assertion criteria provided literature only

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.