ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter)

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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001175333 SCV001338764 pathogenic Tay-Sachs disease criteria provided, single submitter clinical testing In exon 13 of the HEXA gene, the heterozygous nonsense variant NM_000520.5:c .1444G>T;p.Glu482Ter was detected which was inherited from the patient's mother; this variant could not be detected in the father. This variant is not listed in the population-based databases. In the phenotype-related database HGMD it is listed as pathogenic (PubMed: 31388111), in the other phenotype-related databases this nonsense variant is not listed. The ACMG classification for this variant is: pathogenic (class 5: PVS1, PM2, PP5)

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.