Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000512882 | SCV000608387 | pathogenic | Congenital adrenal hypoplasia, X-linked | 2017-09-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865679 | SCV002135654 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2021-02-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with congenital adrenal hypoplasia (PMID: 23018754, 11748841). ClinVar contains an entry for this variant (Variation ID: 444090). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys109*) 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). |
Clinical Molecular Genetics Laboratory, |
RCV000512882 | SCV000692282 | pathogenic | Congenital adrenal hypoplasia, X-linked | 2009-03-03 | no assertion criteria provided | clinical testing |