ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.535C>T (p.Arg179Cys) (rs121909362)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723957 SCV000231487 uncertain significance not provided 2018-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000255291 SCV000321723 uncertain significance not specified 2017-10-05 criteria provided, single submitter clinical testing The R179C variant in the GHR gene has been reported previously in the homozygous state in an individual with Laron syndrome (Amselem et al., 1993) and in the compound heterozygous state along with another missense GHR variant in a child with idiopathic short stature (Goddard et al., 1995). Note that in both reports this variant was reported as R161C due to differences in nomenclature. The R179C variant has also been identified in the heterozygous state in an adult with mild short stature (Meyer et al., 2007). The R179C variant is observed in 737/126,246 alleles (0.58%) from individuals of non-Finnish European background and 97/30,778 alleles (0.32%) from individuals of South Asian ancestry in large population cohorts, including a combined total of 4 homozygous control individuals (Lek et al., 2016). The R179C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We therefore interpret R179C as a variant of uncertain significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660368 SCV000782439 uncertain significance Laron-type isolated somatotropin defect; Short stature, idiopathic, autosomal 2016-05-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764609 SCV000895708 uncertain significance Laron-type isolated somatotropin defect; Short stature, idiopathic, autosomal; Familial hypercholesterolemia; Short stature due to growth hormone secretagogue receptor deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000723957 SCV001012287 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
OMIM RCV000009169 SCV000029386 pathogenic Short stature, idiopathic, autosomal 1995-10-26 no assertion criteria provided literature only

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.