Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002280091 | SCV002568252 | pathogenic | NR0B1-related disorder | 2022-06-29 | criteria provided, single submitter | clinical testing | PVS1 PM2 PS4_Moderate |
Invitae | RCV003764555 | SCV004571459 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly169Alafs*95) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of congenital adrenal hypoplasia (PMID: 9529340, 11748852). ClinVar contains an entry for this variant (Variation ID: 10970). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000011717 | SCV000031949 | pathogenic | Congenital adrenal hypoplasia, X-linked | 1999-12-01 | no assertion criteria provided | literature only |