ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)

dbSNP: rs2147007353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389323 SCV001590646 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2020-07-21 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with congenital adrenal hypoplasia (PMID: 19672728). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln76*) in the NR0B1 gene. It is expected to result in an absent or disrupted protein product.

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