Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550678 | SCV000632387 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2017-08-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu185Argfs*79) in the NR0B1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NR0B1-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486). |