ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.113-2206T>C

gnomAD frequency: 0.00004  dbSNP: rs541081959
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
Counsyl RCV000668627 SCV000793261 likely benign Bifunctional peroxisomal enzyme deficiency 2017-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735736 SCV005367232 uncertain significance HSD17B4-related disorder 2024-08-02 no assertion criteria provided clinical testing The HSD17B4 c.187+2T>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant can be referred to as deep intronic variant c.113-2206T>C using transcript NM_000414. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.