ClinVar Miner

Submissions for variant NM_138711.6(PPARG):c.248C>A (p.Pro83Gln)

gnomAD frequency: 0.00003  dbSNP: rs1800571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512915 SCV003525311 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 113 of the PPARG protein (p.Pro113Gln). This variant is present in population databases (rs1800571, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PPARG-related conditions. This variant is also known as Pro115Gln. ClinVar contains an entry for this variant (Variation ID: 8130). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on PPARG function (PMID: 9753710, 25157153). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000008603 SCV000028811 pathogenic Morbid obesity 1999-12-01 no assertion criteria provided literature only

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