ClinVar Miner

Submissions for variant NM_003403.5(YY1):c.1025G>A (p.Arg342Gln)

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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003445297 SCV004171815 pathogenic Gabriele de Vries syndrome 2023-12-19 criteria provided, single submitter clinical testing The c.1025G>A variant is not present in publicly available population databases like 1000 Genomes, EVS, gnomAD, ExAC, Indian Exome Database or our in-house exome database. This variant has neither been published in literature nor reported to clinical databases like Human Genome Mutation Database (HGMD), OMIM or ClinVar in any affected individuals. In-silico pathogenicity prediction programs like PolyPhen-2, MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is not present in the parents of our patients.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003445297 SCV005418524 uncertain significance Gabriele de Vries syndrome criteria provided, single submitter clinical testing PM2_Supporting+PM6_Supporting+PP4+PP2

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.