ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)

gnomAD frequency: 0.00001  dbSNP: rs121908882
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
GeneDx RCV003151707 SCV003840790 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing Identified in the heterozygous state in patients in the literature who had subclinical hypothyroidism, had autoimmune thyroiditis, or were unaffected (Russo et al., 2000; Nicoletti et al., 2009); Published functional studies demonstrate a damaging effect as the R310C variant reduces binding capacity and shows an inability to increase cAMP levels when stimulated (Russo et al., 2000; Mueller et al., 2009); This variant is associated with the following publications: (PMID: 24728327, 12933653, 20846293, 24845969, 19819720, 19583488, 11095460, 15466939, 34200080, 23154162, 15231707, 26229975, 19820021)
OMIM RCV000006827 SCV000027023 pathogenic Hypothyroidism due to TSH receptor mutations 2000-11-01 no assertion criteria provided literature only
ITMI RCV000122250 SCV000086474 not provided not specified 2013-09-19 no assertion provided reference population

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.