Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002568712 | SCV003315287 | uncertain significance | Androgen resistance syndrome; Kennedy disease | 2022-09-21 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 974911). This missense change has been observed in individual(s) with complete androgen insensitivity syndrome (PMID: 33505695). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 836 of the AR protein (p.Ile836Ser). |
| Institute of Molecular Biology and Genetics, |
RCV001251210 | SCV001371843 | pathogenic | Androgen resistance syndrome | no assertion criteria provided | research | ||
| Human Developmental Genetics, |
RCV001251210 | SCV001787097 | pathogenic | Androgen resistance syndrome | 2021-08-17 | no assertion criteria provided | research |