ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.73C>T (p.Arg25Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322665 SCV004027645 uncertain significance Inherited obesity 2023-07-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736334 SCV005354485 uncertain significance POMC-related disorder 2024-05-31 no assertion criteria provided clinical testing The POMC c.73C>T variant is predicted to result in the amino acid substitution p.Arg25Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East 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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