Research
Hormonal
Heterozygous variants in the POMC gene (specifically p.Arg90His, p.Ser94Gly, p.Ser94=, and p.Ala195=) are associated with an intermediate obesity phenotype in adults, likely due to haploinsufficiency affecting melanocortin peptide processing.
If you carry a heterozygous POMC variant, you may have an intermediate form of genetic obesity that responds differently to standard interventions. This information can help tailor your treatment plan, though functional validation of specific variants is still needed.
LimitedQualifiesLOW confidence
Because these rare POMC variants were found in the heterozygous state in adult patients, they do not cause the classic severe autosomal recessive POMC deficiency syndrome... Instead, these heterozygous variants likely confer strong genetic susceptibility and an intermediate obesity phenotype due to haploinsufficiency...
Why this rating
Based on bioinformatic predictions and observation; functional validation is explicitly stated as a limitation.
Source
The Necessity of POMC and MC3R Analysis in the First-Level Diagnosis of Monogenic Obesity: The Experience of Two Italian Centers
Kateryna Miedviedieva et al. · Genes · 2026
DOI 10.3390/genes17040405
cohort · n=88
Read the paper DOI resolved against Crossref · corpus check 2026-06-10
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