Table 1 Known PLN variants associated with cardiomyopathy.

From: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Variant

Disease

No. of probands carrying variant

Frequency in control chromosomes

Definitely Pathogenic

References

c.25C > T (p.R9C)

DCM

2

0/200; 0/400

Yes

6,18

c.26G > T (p.R9L)

DCM

1

0/1000

Unknown

23,24,35,36

c.26G > A (p.R9H)

DCM

1

0/1000

Unknown

24,36

c.40_42delAGA (p.R14del)

DCM, ARVC

39 DCM, 13 ARVC10; 1 DCM8; 1 DCM25; 101 DCM and ARVC13; 1 DCM26; 1 DCM24; 1 ARVC21

1/94610; 0/13168;0/20025;6/1643413; 0/100024

Yes

8,10,13,21,24, 25, 26,37

c.73C > T (p.R25C)

DCM

1

NA

Unknown

27

c.116T > G (p.L39X)

DCM, HCM

2 DCM7; 1 HCM28; 1 HCM9

0/5007; 0/60028; 0/2009

Yes (DCM) and Unknown (HCM)

7,9,28

c.1-77A > G

HCM

1

0/592

Unknown

29

c.1-42C > G

HCM

1

0/100

Unknown

30

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