ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.2368G>T (p.Glu790Ter)

dbSNP: rs2139593716
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
MVZ Dr. Eberhard & Partner Dortmund RCV002222315 SCV002499737 likely pathogenic not provided 2022-02-21 criteria provided, single submitter clinical testing This sequence change from G to T leads to a premature STOP codon at Glu790. Due to the nonsense mutation and the possibility of nonsense mediated decay, a null variant with loss of function is created. Therefore the mutation is a null variant in a gene where loss of function is a known mechanism of disease. This mutation is also absent from controls in Exome Sequencing Project. This variant is considered to be likely pathogenic according to the ACMG guidelines.

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.