ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)

dbSNP: rs1324519932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000722070 SCV000853249 pathogenic Congenital adrenal hypoplasia, X-linked 2018-11-23 criteria provided, single submitter clinical testing
Invitae RCV000797777 SCV000937356 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2023-04-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 590884). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NR0B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu307*) in 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 (PMID: 7990958, 15841486).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003483715 SCV004231775 benign not specified 2023-05-12 criteria provided, single submitter research

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