Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003041429 | SCV003444668 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2022-01-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is also known as E38X. This premature translational stop signal has been observed in individual(s) with congenital adrenal hypoplasia (PMID: 16684822). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu98*) in the NR0B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486). |