Table 2 Variants identified by NGS and classified as pathogenic/likely pathogenic according to guidelines

From: Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias

Case

Sex

Age of onset

Phenotypea

Gene

Reference sequence

Nucleotide

Amino acid

Coding effect

Minor allele frequency (MAF)

ACMG score

References

         

ESP

ExAC

dbSNP

2000 danes

  

#1b

M

38

DCM/DCM

RMB20

(NM_001134363.1)

c.1906C>A

p.(Arg636Ser)

Missense

0%

0%

—

0%

5

Brauch KM [13]

#20b

F

12

LQTS/LQTS

SNTA1

(NM_003098.2)

c.770C>G

p.(Ala257Gly)

Missense

0.30%

0.33%

0.001%

0.004%

4

Geru W [38]

#23b

M

34

ARVC/ARVC

PKP2

(NM_004572.3)

c.(336 + 1_337-1)_(1034 + 1_1035-1)del

p.(?)

Deletion

—

—

—

—

5

Novel

#34b

F

21

IVF/Myopathy

NEBL

(NM_006393.2)

c.180G>A

p.(Lys60Asn)

Missense

—

0.0015%

—

0.0005%

5

Purejav E [39]

#50

M

41

HCM/HCM

MYBPC3

(NM_000266.3)

c.772G>A

p.(Glu258Lys)

Splice

—

0.0069%

—

0%

5

Vignier N [40]

#59b

M

37

ARVC/ARVC

PKP2

(NM_004572.3)

c.(2299 + 1_23001)_(a1678…?)

p.(?)

Deletion

—

—

—

—

5

Novel

#62b

M

49

IVF/Myopathy

MYH7

(NM_000257.2)

c.345 + 1G > A

p.(?)

Splice

—

0.003%

—

—

5

Novel

#63

M

17

IVF/LQTS

KCNH2

(NM_000238.3)

c.87 C> A

p.(Phe29Leu)

Missense

—

—

—

0%

4

Kapplinger JD [41]

#75b

M

10

ARVC/CPVT

RYR2

(NM_001035.2)

c.14553C > A

p.(Phe4851Lys)

Missense

—

—

—

0%

5

Hayashi M [42]

#76b

F

33

ARVC/CPVT

RYR2

(NM_001035.2)

c.1258C > T

p.(Arg420Trp)

Missense

—

0.0015%

0%

0%

5

Bauce B [43]

#77b

F

19

ARVC/MEPPC

SCN5A

(NM_198056.2)

c.638G > A

p.(Gly213Asp)

Missense

—

—

—

—

5

Haas J [44]

#78

F

18

IVF/IVF

CRSP3

(NM_003476.3)

c.44 del (h)

p.(Lys15fs)

Deletion

—

—

—

—

5

Novel

    

MYL3

(NM_000258.2)

c.170C > A

p.(Ala57Asp)

Missense

—

0.0075%

0%

0.0005%

4

Kazmierczak K [45]

#79

F

42

IVF/ARVC

DSP

(NM_004415.2)

c.(273 + 1_274-1)_(2130 + 1_2131-1)del

p.(?)

Deletion

—

—

—

—

5

Novel

  1. ARVC arrhythmogenic right ventricular tachycardia, CPVT catecholaminergic polymorph ventricular tachycardia, DCM dilated cardiomyopathy, HCM hypertrophic cardiomyopathy, IVF idiopathic ventricular fibrillation, LQTS Long QT syndrome, MEPPC multifocal ectopic premature purkinje-related contractions, ?—precise localization of the deletion is unknown and the amino-acid change cannot be predicted
  2. aPresumed phenotype before/after investigation with a targeted NGS panel
  3. bPreviously sequenced in a small gene  panel
  4. Del deletion, (h) homozygote, (—)—variant not represented in the population database
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