ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) (rs1057519468)

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
Invitae RCV000416424 SCV000815194 pathogenic Tay-Sachs disease 2018-03-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp485*) in the HEXA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Tay-Sachs disease (PMID: 23852624). ClinVar contains an entry for this variant (Variation ID: 375365). Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). For these reasons, this variant has been classified as Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000416424 SCV000494228 pathogenic Tay-Sachs disease 2012-03-24 no assertion criteria provided research

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.