Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381488 | SCV001579908 | pathogenic | Androgen resistance syndrome; Kennedy disease | 2017-03-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). This sequence change creates a premature translational stop signal at codon 107 (p.Tyr107*) of the AR gene. It is expected to result in an absent or disrupted protein product. |