ClinVar Miner

Submissions for variant NM_182746.3(MCM4):c.686dup (p.Tyr229Ter)

dbSNP: rs1563831163
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
Illumina Laboratory Services, Illumina RCV000779557 SCV000916231 uncertain significance Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 2017-04-28 criteria provided, single submitter clinical testing The MCM4 gene is the only gene associated with natural killer cell and glucocorticoid deficiency with DNA repair defect. The MCM4 c.685_686insA (p.Tyr229Ter) variant is a frameshift variant and is predicted to cause a truncation of the protein. Frequency information is not available from the 1000 Genomes Project, the Exome Sequencing Project, nor the Exome Aggregation Consortium. Based on the disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity.

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.