ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)

dbSNP: rs1131691564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493558 SCV000582389 pathogenic not provided 2015-09-16 criteria provided, single submitter clinical testing The W236X variant has been reported previously in association with X-linked adrenal hypoplasia congenita (AHC) (Holzinger et al., 2008). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is interpreted as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000763207 SCV000893829 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2018-10-31 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584087 SCV000692283 pathogenic Congenital adrenal hypoplasia, X-linked 2014-05-14 no assertion criteria provided clinical testing
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000584087 SCV001482336 pathogenic Congenital adrenal hypoplasia, X-linked 2019-05-31 no assertion criteria provided research

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