ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) (rs1131691564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
Fulgent Genetics,Fulgent Genetics RCV000763207 SCV000893829 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal, type 2 2018-10-31 criteria provided, single submitter clinical testing
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.

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