ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) (rs1555973131)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540337 SCV000632386 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal, type 2 2017-05-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 172 (p.Trp172*) of the NR0B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR0B1 are known to be pathogenic. This particular variant has been reported in the literature in a family affected with congenital adrenal hypoplasia (PMID: 7990958). This gene is also known as DAX1 in the literature. For these reasons, this variant has been classified as Pathogenic.

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