Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003783757 | SCV004571458 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2022-11-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with congenital adrenal hypoplasia (PMID: 20573681). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln222*) 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). |