ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.257+197_531-8del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001260996 SCV001438377 likely pathogenic Pseudopseudohypoparathyroidism 2020-10-12 criteria provided, single submitter clinical testing GNAS c.257+197_531-8del results in the deletion of exons 4-6 and is absent from large population datasets. This variant has not been reported to ClinVar nor the literature to our knowledge. Other rare, multi-exon deletions in GNAS have been identified in individuals with PHP1a or PPHP. We consider this variant to be likely pathogenic.

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.