ClinVar Miner

Submissions for variant NM_021969.3(NR0B2):c.497A>G (p.Tyr166Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228685 SCV003925436 uncertain significance Inherited obesity 2022-04-20 criteria provided, single submitter clinical testing The c.497A>G variant has not previously been reported in the literature or public variant repositories (ClinVar, HGMD) and is absent from population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.497A>G variant is located in exon 1 of this 2-exon gene and is predicted to replace an evolutionarily conserved tyrosine amino acid with cysteine at position 166 in the ligand-binding domain of the encoded protein [PMID: 20970497]. In silico predictions are in favor of damaging effect for p.(Tyr166Cys) [(REVEL = 0.845]; however, there are no functional studies to support or refute these predictions. Based on available evidence this c.497A>G p.(Tyr166Cys) variant identified in NR0B2 is classified as a Variant of Uncertain Significance.

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