Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001305872 | SCV001495220 | uncertain significance | Androgen resistance syndrome; Kennedy disease | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 722 of the AR protein (p.Ala722Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AR-related conditions. ClinVar contains an entry for this variant (Variation ID: 9836). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AR protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004767001 | SCV005381635 | uncertain significance | not specified | 2024-08-01 | criteria provided, single submitter | clinical testing | Variant summary: AR c.2164G>A (p.Ala722Thr) results in a non-conservative amino acid change located in the Nuclear hormone receptor, ligand-binding domain (IPR000536) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 171949 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2164G>A in individuals affected with Androgen Resistance Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 9836). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| OMIM | RCV000010510 | SCV000030736 | pathogenic | Prostate cancer, somatic | 1995-05-25 | no assertion criteria provided | literature only |