Skip to main content
. Author manuscript; available in PMC: 2023 Jul 17.
Published in final edited form as: Genet Med. 2021 Jun 30;23(11):2186–2193. doi: 10.1038/s41436-021-01255-1

Table 1. Variants which are classified as a variant of unknown significance using the adapted ACMG/AMP criteria for DCM. The variants were initially classified as likely pathogenic or pathogenic.

Gene Number of index patients Allele Nucleotide consequencea Amino acid consequencea Classification (criteria)b Previous classification (criteria)c
DSP 1 Heterozygous c.3383_3384del Val1128Glyfs*5 VUS (PM2; PP1; PVS1_mod) Pathogenic (PM2; PP1; PP3; PVS1)
DSP 1 Heterozygous c.6393del p.Gly2133Valfs*2 VUS (PM2; PVS1_mod) Pathogenic (PM2; PP3; PVS1; PP5)
DSP 2 Heterozygous c.7773_7776del p.Ser2591Argfs*11 VUS (PM2: PS4_sup; PVS1_mod) Pathogenic (PM2; PP3; PVS1)
MYH7 1 Heterozygous c.5722G>A p.Glu1908Lys VUS (PM2; PP3) Likely pathogenic (PM1; PM2; PP1; PP3)
MYH7 1 Heterozygous c.732+1G>A Disruptscanonicalsplice site VUS (PM2; PS4_sup: PVS1_mod) Likely pathogenic (PM2; PP1; PP3; PP4; PP5)
NEXN 2 Heterozygous c.1909_1912del p.Tyr637Alafs*48 VUS (PM2; PP1; PS4_sup) Likely pathogenic (PM2; PP1; PP3; PP4; PP5)
RBM20 1 Heterozygous c.1528-1G>C p.? VUS (PM2) Likely pathogenic (PM2; PP1; PP3; PP4; PVS1)
RBM20 1 Heterozygous c.1764T>G p.Ile588Met VUS (PM2) Likely pathogenic (PM1; PM2; PP3; PP4)
RBM20 1 Heterozygous c.419del p.Pro140Argfs*3 VUS (PM2) Pathogenic (PM2; PP1; PP3; PP4; PVS1)
TNNC1 1 Heterozygous c.317+1G>A Disruptscanonicalsplice site VUS (PM2; PP1_mod; PS4_sup) Likely pathogenic (PS3; PM2; PP1; PP3;)
TNNT2 5 Heterozygous c.742T>G p.Phe248Val VUS (PM2; PP1; PP3; PS4_sup) Likely pathogenic (PM1; PM2; PP1; PP3; PP4)
TNNT2 1 Heterozygous c.442C>T p.Arg148Trp VUS (PM2; PM5; PP3) Likely pathogenic (PM5; PM1; PM2; PP3; PP2)
a

See Table S1 for the reference refseq transcripts

b

See Table S7 for full criteria checklist

c

See Table S8 for the comparison between the previous and adapted classification of all variants that were reclassified from method 2 to method 3