. 2023 May 19;10:1127261. doi: 10.3389/fcvm.2023.1127261

Table 1.

Overview of the investigated variants in this study. For each variant the nucleotide (nt) change, the reference SNP (rs), the minor allele frequency (MAF) as well as the classification and the database/s is/are given when present.

Variant	nt-exchange	Reference SNP	MAF°	ACMG-Classification
p.D30N	c.88G > A	rs1987673824	–	VUS¹
p.C32S	c.94T > G, c.95T > C	model variant	–	–
p.C32A	c.95T > C	model variant	–	–
p.V52A	c.155T > C	rs1987629779	–	VUS¹
p.V52I	c.154G > A	rs757588306	0.0004	VUS²
p.V52G	c.155T > G	model variant	–	–
p.V52l	c.154G > C	model variant	–	–
p.C57S	c.170G > C	model variant	–	–
p.C57A	c.169T > G, c.170G > C	model variant	–	–
p.F71Y	c.212T > A	model variant	–	–
p.F71A	c.211T > G, c.212T > C	model variant	–	–
p.F71S	c.212T > C	model variant	–	–
p.G77V	c.230G > T	rs761544006	0.0004	VUS¹^,²
p.G77D	c.230G > A	rs761544006	–	VUS¹
p.G77S^c	c.229G > A	–	–	VUS³, pathogenic⁴^,^**
p.V79A	c.236T > C	model variant	–	–
p.V79I	c.235G > A	model variant	–	–
p.V79G^c (34)	c.236T > G	rs886038828	–	VUS¹, pathogenic⁴
p.V79l	c.235G > C	model variant	–	–
p.I96V	c.286A > G	rs772447450	0.002	VUS¹^,²
p.I96T^c	c.287T > C	rs1320040048	–	pathogenic³^,⁴^,^**
p.I96l	c.286A > C	model variant	–	–
p.I96A	c.286A > G, c.287T > C	model variant	–	–

^¹

ClinVar (31)

^²

gnomAD (32)

^³

ARVC database (29)

^⁴

HGMD (30)

^{^c}

conflicting interpretation (08/2022), −, no data available, °MAF; derived from gnomAD (10/2022)

^{^**}

Classification is based on in silico data (SIFT (35), PolyPhen (36)) only (03/2023).