ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)

dbSNP: rs1555973172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000512882 SCV000608387 pathogenic Congenital adrenal hypoplasia, X-linked 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV001865679 SCV002135654 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2021-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with congenital adrenal hypoplasia (PMID: 23018754, 11748841). ClinVar contains an entry for this variant (Variation ID: 444090). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys109*) 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).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000512882 SCV000692282 pathogenic Congenital adrenal hypoplasia, X-linked 2009-03-03 no assertion criteria provided clinical testing

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