Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002871131 | SCV003223919 | pathogenic | Oligosynaptic infertility; 46,XY disorder of sex development | 2022-07-25 | 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 46,XY disorder of sex development (PMID: 33351340). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr197*) in the NR5A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR5A1 are known to be pathogenic (PMID: 10369247, 12907682, 19246354). |