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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)