ClinVar Miner

Submissions for variant NM_138711.6(PPARG):c.346dup (p.Ala116fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital RCV004723632 SCV005326510 likely pathogenic PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus 2024-09-16 criteria provided, single submitter clinical testing PPARG c.436dup is a frameshift variant, with a premature stop codon, and loss-of-function in the PPARG gene is a known mechanism of disease. This variant was not previously reported in population databases (gnomAD v2.1.1 and v4.1.0) and clinical databases (ClinVar, HGMD).

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