Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001577849 | SCV001805320 | uncertain significance | not provided | 2019-08-27 | criteria provided, single submitter | clinical testing | Reported in published literature as a variant found in general population databases (Filopanti et al., 2012; Rotwein et al., 2017); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28498917, 22162472) |
| Labcorp Genetics |
RCV001577849 | SCV002475302 | likely benign | not provided | 2024-10-16 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005237917 | SCV005886737 | likely benign | not specified | 2025-02-25 | criteria provided, single submitter | clinical testing | Variant summary: GHR c.536G>A (p.Arg179His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00016 in 1443552 control chromosomes, predominantly at a frequency of 0.0039 within the African or African-American subpopulation in the gnomAD v4 database. The observed variant frequency within African or African-American control individuals in the gnomAD v4 database is higher than the estimated maximal expected allele frequency for a pathogenic variant in GHR causing Growth Hormone Insensitivity phenotype (0.0035). To our knowledge, no experimental evidence demonstrating this variant's impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 1209244). Based on the evidence outlined above, the variant was classified as likely benign. |