Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796993 | SCV000936530 | pathogenic | Androgen resistance syndrome; Kennedy disease | 2018-08-05 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual affected with androgen insensitivity syndrome (PMID: 16283146). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln59*) in the AR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). For these reasons, this variant has been classified as Pathogenic. |