Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report

Table 1 Detection results for the full-exon group

Mutant gene	Nucleic acid/amino acid change	RS/HGMD-ID	Hom/Het/Hemi1	ACMG classification level
PPARG; NM_015869.4; chr3:12379905	Exon2;c.284A>G;p.Tyr95Cys		Het	Uncertain significance (Tepid)

¹Hom indicates a homozygous mutation, Het signifies a heterozygous mutation, and Hemi denotes a hemizygous state.

Detection results for the full-exon group revealed the following findings. Following the established guidelines set by the ACMG, initial identification of the variation suggested that it was a variant of unknown clinical significance, specifically classified as uncertain significance (PM1+PM2). PM1 refers to the genetic variance within the specified molecular region. PM2, on the other hand, is supported by the reported frequency of this genetic variation in the general population database, which is 0.000006978, indicating its rarity. Taking all these factors into consideration, the variant carries a VUS score of 3. Furthermore, it is worth noting that a tepid temperature scale was employed during the assessment.