ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) (rs104894894)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481802 SCV000566753 pathogenic not provided 2016-07-20 criteria provided, single submitter clinical testing The Q395X nonsense variant in the NR0B1 gene has been reported previously in association with X-linked adrenal hypoplasia (Nakae et al., 1996). This variant is predicted to cause loss of normal protein function through protein truncation. Therefore, we interpret the Q395X variant as pathogenic.
OMIM RCV000011705 SCV000031937 pathogenic Congenital adrenal hypoplasia, X-linked 1996-10-01 no assertion criteria provided literature only

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