ClinVar Miner

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

dbSNP: 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 2 2017-08-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 has not been reported in the literature in individuals with NR0B1-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486).

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