Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387509 | SCV001588165 | pathogenic | Androgen resistance syndrome; Kennedy disease | 2017-02-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 481 (p.Tyr481*) of the AR gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). However, a different variant (c.1443C>A), which also results in a premature termination codon at the same position (referred as Tyr480Stop in the literature), has been observed in an individual affected with androgen insensitivty syndrome (PMID: 10571951). For these reasons, this variant has been classified as Pathogenic. |
Dept. |
RCV000543473 | SCV001960995 | pathogenic | Androgen resistance syndrome | criteria provided, single submitter | clinical testing |