Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000723957 | SCV000231487 | uncertain significance | not provided | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
RCV000660368 | SCV000782439 | uncertain significance | Laron-type isolated somatotropin defect; Short stature, idiopathic, autosomal | 2016-05-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764609 | SCV000895708 | uncertain significance | Laron-type isolated somatotropin defect; Short stature, idiopathic, autosomal; Familial hypercholesterolemia 1; Short stature due to growth hormone secretagogue receptor deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000723957 | SCV001012287 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000723957 | SCV001154400 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001156022 | SCV001317495 | likely benign | Laron-type isolated somatotropin defect | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
OMIM | RCV000009169 | SCV000029386 | pathogenic | Short stature, idiopathic, autosomal | 1995-10-26 | no assertion criteria provided | literature only |