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Table 1 Summary of findings in positive cases and mutation classification based on ACMG/AMP guidelines

From: A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Index ID Gene Mutation Novel Effect Evidence of pathogenicity
10R-00963
10R-00534
CAPN3 NM_000070:c.801+1G>A No Pathogenic PVS1, PP1-S, PM2, PM3, PP1-M, PP1, PP3, PP4
10R-00309
10R-00658
11R-02841
11R-03100
FKRP NM_001039885:c.941C>T;p.T314M No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP3, PP2, PP4
11R-00685 ALG2 NM_033087.3:indel:c.214_224delGGGGACTGGCT
delinsAGTCCCCG;p.72_75delGDWLinsSPR
No Pathogenic PVS1, PP1-S, PM2, PM3, PM4, PP1, PP3, PP4
10R-00500
10R-00405
10R-00538
14R-02300
11R-01506
12R-01190
DYSF NM_003494:c.164_165insA;p.I57Hfs*8 No Pathogenic PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4
11R-00680
10R-00857
SGCA NM_001135697:c.608_609insCG;p.S203fs Yes Pathogenic PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4
794310
502098
11R-00463
SGCA NM_001135697:c.101G>A;p.R34H No Pathogenic PM2, PP1-S, PM3, PP1-M, PP1, PP2, PP3, PP4
10R-00739 CAPN3 NM_000070:cA2329A>G;p.I777V Yes Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
10R-00751 SEPN1 NM_206926:c.1270G>A;p.D424N Yes Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
10R-00779 CAPN3 NM_000070:c.146G>A;p.R49H No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
10R-00926 SGCB NM_000232:c.355A>T;p.I119F No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
10R-00973 FKTN NM_006731:c.314G>T;p.C105F No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
11R-00018
13R-01080
CAPN3 NM_000070:c.1699G>A;p.G567R Yes Likely pathogenic PM2, PM3, PP2, PP3, PP4
11R-00031 GNE NM_001190384:c.1805T>C;p.M602T No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
11R-00230
12R-01188
FKRP NM_001039885:c.941C>T;p.T314M No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
11R-00232 WNK1 NM_213655:c.2152C>T:p.R718C Yes Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
11R-00308
12R-01189
DYSF NM_001130976:c.1433delC;p.T478fs Yes Pathogenic PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP4, PP3
11R-00337 FKRP NM_001039885:c.1012G>T;p.V338L Yes Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
11R-00745 DYSF NM_001130976:c.A5201T;p.E1734V No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
11R-02618 CAPN3 NM_000070:c.310G>T;p.E104X Yes Pathogenic PVS1, PM2, PM3, PM4, PP3, PP4
12R-00001 ANO5 NM_001142649, c.169C>T;p.R57W No Pathogenic PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
12R-00316 CAPN3 NM_000070:c.2381-1G>A Yes Pathogenic PVS1, PM2, PM3, PM4, PP1-M, PP1-S, PP1, PP3, PP4
13R-01177 DYSF NM_001130976:c.89-1G>A Yes Pathogenic PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4
14R-00183 DNAJB6 NM_005494:c.C287T;p.P96L Yes Pathogenic PP1-S, PM2, PP1-M, PP1, PP2, PP3, PP4
  1. ACMG/AMP American College of Medical Genetics and Genomics/Association for Molecular Pathology, PVS1 pathogenic very strong, PM2-4 pathogenic moderate, PP1-4 pathogenic supporting, PP1-M pathogenic supporting (moderate), PP1-S pathogenic supporting (strong)