ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.965del (p.Ile322fs)

gnomAD frequency: 0.00001  dbSNP: rs768438206
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673580 SCV000798799 likely pathogenic Sandhoff disease 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV000673580 SCV000931638 pathogenic Sandhoff disease 2018-10-31 criteria provided, single submitter clinical testing Loss-of-function variants in HEXB are known to be pathogenic (PMID: 7550345, 18758829). For these reasons, this variant has been classified as Pathogenic. This variant has been observed to segregate with Sandhoff disease in a family (PMID: 18758829). ClinVar contains an entry for this variant (Variation ID: 557437). This variant is present in population databases (rs768438206, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Ile322Lysfs*5) in the HEXB gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000004092 SCV000024258 pathogenic Sandhoff disease, infantile form 2009-02-01 no assertion criteria provided literature only

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.