ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)

dbSNP: rs104894892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413730 SCV000490670 pathogenic not provided 2016-04-04 criteria provided, single submitter clinical testing The Y91X nonsense variant in the NR0B1 gene has been reported previously in association withX-linked adrenal hypoplasia congenita (AHC) (Nake et al., 1996; Guo et al., 1996). The Y91X variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret Y91X to be a pathogenic variant.
OMIM RCV000011703 SCV000031935 pathogenic Congenital adrenal hypoplasia, X-linked 1996-10-01 no assertion criteria provided literature only
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000011703 SCV001482354 pathogenic Congenital adrenal hypoplasia, X-linked 2019-05-31 no assertion criteria provided research

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