Table 2. Individuals with PVs and LPVs in the FHS.

LOF, loss of function; F, female; M, male; PW, posterior wall width; LVD, left ventricular diameter; FS, fractional shortening; BC, breast cancer; OC, ovarian cancer; HCM, hypertrophic cardiomyopathy; HCL, hypercholesterolemia; ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Gene	Variant and amino acid	Amino acid	Summary of classification evidence*	Associated condition	RCFs	Age†	Sex
PVs
BRCA2	c.5213_5216del	p.Thr1738Ilefs*2	Previously reported, LOF is a known mechanism of disease	BC; OC	Breast cancer	27–60	F
BRCA2	c.4398_4402del	p.Leu1466Phefs*2	Previously reported, LOF is a known mechanism of disease	BC; OC	Prostate cancer	48–75	M
MYBPC3	c.1504C>T	p.Arg502Trp	Well-established PV	HCM	SW, 1.03 cm PW, 1.07 cm LVD, 6.25 cm FS, 17%	41–71	M
MYBPC3	c.26-2A>G	p.?	Previously reported, some segregation, affects canonical splice site	HCM	Normal appearance of heart on echocardiography	38–73	M
LDLR	c.429C>A	p.Cys143*	Not previously reported, LOF is a known mechanism of disease	HCL	LDL, 195 mg/dl, on no cholesterol medication	35–68	F
LPVs
GLA	c.335G>A	p.Arg112His	Previously reported in cases, limited segregation and functional evidence	Fabry	Normal appearance of heart on echocardiography	49–83	F
DSP	c.4180C>T	p.Gln1394*	Not previously reported, LOF is a suspected mechanism of disease	ARVD/C	Normal appearance of heart on echocardiography	24–58	F

^*Further details of classification evidence are provided in table S2.

^†Ages followed in the FHS.