ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) (rs369091875)

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000504966 SCV000586695 pathogenic Van Maldergem syndrome 1 2016-03-05 no assertion criteria provided clinical testing This variant has been reported in 1000 Genomes and ExAC databases. This variant is predicted to be probably damaging by PolyPhen-2 and damaging by LRT and Mutation Taster.
Reproductive Health Research and Development,BGI Genomics RCV000504966 SCV001142417 uncertain significance Van Maldergem syndrome 1 2020-01-06 no assertion criteria provided curation NM_003737.2:c.2382G>C in the DCHS1 gene has an allele frequency of 0.008 in South Asian subpopulation in the gnomAD database. It has not been reported previously as a pathogenic variant nor as a benign variant. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: Null.

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.