ClinVar Miner

Submissions for variant NM_021969.3(NR0B2):c.712C>T (p.Arg238Cys)

dbSNP: rs777140276
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001823855 SCV002073523 uncertain significance Obesity criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001823855 SCV002505559 uncertain significance Obesity 2022-03-21 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM2_SUP, PP3
Ambry Genetics RCV004041005 SCV003862916 uncertain significance not specified 2023-02-14 criteria provided, single submitter clinical testing The c.712C>T (p.R238C) alteration is located in exon 2 (coding exon 2) of the NR0B2 gene. This alteration results from a C to T substitution at nucleotide position 712, causing the arginine (R) at amino acid position 238 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Leipzig Medical Center RCV004762193 SCV005368078 uncertain significance Inherited obesity 2022-03-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892880 SCV004717959 uncertain significance NR0B2-related disorder 2024-01-30 no assertion criteria provided clinical testing The NR0B2 c.712C>T variant is predicted to result in the amino acid substitution p.Arg238Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.046% of alleles in individuals of South Asian 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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