ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.552del (p.Glu185fs) (rs1555973115)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550678 SCV000632387 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal, type 2 2017-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu185Argfs*79) in the NR0B1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NR0B1-related disease. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486). For these reasons, this variant has been classified as Pathogenic.

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