Table 1.

Disease-Causing Heterozygous Variants in LMNA and PPARG in the Study Participants

Gene	rs Numbera	Variant		No. of Patients	Pathogenicity Basis	ClinVarb	Reference(s)
		cDNA Level	Protein Level
LMNA	rs57920071	c.1444C>T	p.R482W	4	Genotype-phenotype segregation	Pathogenic	(4)
LMNA	rs11575937	c.1445G>A	p.R482Q	14	Genotype-phenotype segregation	Pathogenic	(3, 4, 12)
LMNA	rs61444459	c.1622G>C	p.R541P	1	Genotype-phenotype segregation	Pathogenic/likely pathogenic
LMNA	rs56657623	c.1751G>A	p.R584H	1	None	Uncertain significance	(13)
LMNA	NA	c.1543A>G	p.K515E	1	None	Not reported	(14)
LMNA	rs267607543	c.1488+5G>C	p.I497Vfs*20	1	Functional studies	Pathogenic	(15)
PPARG	rs72551364	c.1273C>T	p.R425C	1	Genotype-phenotype segregation	Pathogenic	(11, 16)
PPARG	rs121909246	c.580C>T	p.R194W	1	Genotype-phenotype segregation	Pathogenic	(17, 18)
PPARG	rs121909244	c.1484C>T	p.P495L	1	Functional study	Conflicting interpretations of pathogenicity	(2, 17, 19)
PPARG	NA	c.1159C>T	p.P387S	2	Functional study; genotype-phenotype segregation	Not reported	(17)c
PPARG	NA	c.1313A>C	p.Q438P	1	Functional study	Not reported	(17)d
PPARG	NA	c.1184A>G	p.K395R	1	Genotype-phenotype segregation	Not reported	(17)e

LMNA: mRNA Accession Number NM_170707.3; Protein Accession Number NP_733821.1; PPARG: mRNA Accession Number NM_015869.4; Protein Accession Number NP_056953.2.

Abbreviation: NA, not available.

^a https://www.ncbi.nlm.nih.gov/snp.

^b https://www.ncbi.nlm.nih.gov/clinvar/.

^cPer http://miter.broadinstitute.org/, this variant has 40% probability of causing FPLD3.

^dPer http://miter.broadinstitute.org/, this variant has 97.1% probability of causing FPLD3.

^ePer http://miter.broadinstitute.org/, this variant has <0.1% probability of causing FPLD3.