ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.912G>A (p.Lys304=) (rs1592646211)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000963 SCV001158062 uncertain significance Multiple endocrine neoplasia, type 1 2018-12-07 criteria provided, single submitter clinical testing The MEN1 c.912G>A; p.Lys304Lys variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This is a synonymous variant in a highly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by disrupting the canonical splice donor site of intron 6, which is likely to disrupt gene function. However, given the lack of clinical and functional data, the significance of the p.Lys304Lys variant is uncertain at this time.
Ambry Genetics RCV001018904 SCV001180199 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-19 criteria provided, single submitter clinical testing Last nucleotide of exon;Other data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes);Well-characterized mutation at same position

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.