Table 2 In silico analysis and classification of two novel MYORG variants

Amino acid change

p.Trp163Leu

p.Trp712*

jMorp (allele frequency_hetero)

0.000018

0.000009

jMorp (allele frequency_homo)

0

0

gnomAD (allele frequency_hetero)

0.000000697

0.00000169

gnomAD (allele frequency_homo)

0

0

SIFT

0.18

n.a

PolyPhen-2

1

n.a

PROVEAN

−9.981

n.a

Mutation Taster

1

0.9997

FATHMN-MKL

0.9859

0.9649

CADD (RawScore)

3.915469

7.867326

CADD (PHRED)

26.4

39

BayesDel noAF

0.343

0.6022

ΔΔG (mCSM prediction)

−2.699 kcal/mol

n.a

ΔΔG (SDM prediction)

−2.480 kcal/mol

n.a

ΔΔG (DUET prediction)

−2.719 kcal/mol

n.a

ACMG criteria

PP1/PP4 Strong

PVS1 Moderate

PM2 Supporting

PM2 Supporting

PP3 Moderate

PP3 Moderate

PS4 Supporting

PS4 Moderate

Likely Pathogenic

Likely Pathogenic