ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.501del (p.Gly169fs)

dbSNP: rs1569268976
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280091 SCV002568252 pathogenic NR0B1-related disorder 2022-06-29 criteria provided, single submitter clinical testing PVS1 PM2 PS4_Moderate
Invitae RCV003764555 SCV004571459 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly169Alafs*95) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of congenital adrenal hypoplasia (PMID: 9529340, 11748852). ClinVar contains an entry for this variant (Variation ID: 10970). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011717 SCV000031949 pathogenic Congenital adrenal hypoplasia, X-linked 1999-12-01 no assertion criteria provided literature only

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