ClinVar Miner

Submissions for variant NM_021969.3(NR0B2):c.637C>T (p.Arg213Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228577 SCV003925127 uncertain significance Inherited obesity 2022-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747276 SCV005358207 uncertain significance NR0B2-related disorder 2024-08-19 no assertion criteria provided clinical testing The NR0B2 c.637C>T variant is predicted to result in the amino acid substitution p.Arg213Cys. This variant was reported in an individual with mild obesity (Nishigori et al. 2001. PubMed ID: 11136233) and in vitro functional studies show this variant impacts protein function (Nishigori et al. 2001. PubMed ID: 11136233; Boulias et al. 2004. PubMed ID: 15550569). This variant is reported in 0.055% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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