ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)

gnomAD frequency: 0.00084  dbSNP: rs151317312
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571528 SCV001796025 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae RCV002072219 SCV002391969 benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002072219 SCV002794912 likely benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2021-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536203 SCV004723875 benign NR0B1-related disorder 2020-01-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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