ClinVar Miner

Submissions for variant NM_021969.3(NR0B2):c.211A>G (p.Arg71Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003336046 SCV004046563 uncertain significance Inherited obesity 2022-10-26 criteria provided, single submitter clinical testing The c.211A>G, p.(Arg71Gly) variant identified in the NR0B2 gene substitutes a moderately conserved Arginine for Glycine at amino acid 71/258 (exon 1/2). This variant is found with low frequency in population databases (gnomAD, BRAVO-TOPMed, All of Us) with highest allele frequency of 9.1e-6 (All ofUs) suggesting it is not a common benign variant in the populations represented in those databases. In silico algorithms predict this variant to be Pathogenic (REVEL=0.719) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the c.211A>G, p.(Arg71Gly) variant identified in the NR0B2 gene is reported as a Variant of Uncertain Significance.
Ambry Genetics RCV004334149 SCV004991773 uncertain significance not specified 2024-02-05 criteria provided, single submitter clinical testing The c.211A>G (p.R71G) alteration is located in exon 1 (coding exon 1) of the NR0B2 gene. This alteration results from a A to G substitution at nucleotide position 211, causing the arginine (R) at amino acid position 71 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936747 SCV004754988 uncertain significance NR0B2-related disorder 2024-02-15 no assertion criteria provided clinical testing The NR0B2 c.211A>G variant is predicted to result in the amino acid substitution p.Arg71Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of African descent in gnomAD. 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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