Table 1.

Summary of criteria used for classification of VLP

	Variant 1	Variant 2	Variant 3
Evidence	p.D58H c.172G>C	p.A65V c.194C>T	p.T80I c.239C>T
Rarity based on population cohorts in gnomAD	X	X	X
Structural biology (i.e., nearby pathogenic variants and hotspot)	X	X	X
Evidence of clinical disease based on diagnostic testing (e.g., biopsy or 99mTc pyrophosphate [PYP] imaging)	X	X	–
Other instances of the variant identified in unrelated probands meeting diagnostic criteria	–	–	X

VLP variant likely pathogenic