ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) (rs1564415858)

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 Clinical Services Laboratory,Illumina RCV000779023 SCV000915469 uncertain significance Imerslund-Gräsbeck syndrome 2018-10-11 criteria provided, single submitter clinical testing The CUBN c.7861dupT (p.Tyr2621LeufsTer11) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene and cDNA change, and amino acid change. No publications were found based on this search. The p.Tyr2621LeufsTer11 variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Tyr2621LeufsTer11 variant is classified as a variant of unknown significance but suspicious for pathogenicity for megaloblastic anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.