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Table 2 The pathogenic analysis of variants in the ETFDH gene

From: Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report

Novel variants

Protein change

gnomAD (frequency)

PolyPhen-2

SIFT

Mutation Taster

ACMG criteria

c.34G > C

p.A12P

0.000003978

1.00

0.00

disease causing

likely pathogenic

c.265_266delCA

p.Q89Vfs*5

0

–

–

disease causing

pathogenic

c.736G > A

p.E246K

0

0.959

0.01

disease causing

pathogenic

c.1211 T > C

p.M404 T

0.00000796

0.989

0.00

disease causing

pathogenic

  1. gnomAD Genome aggregation database, SIFT sorting tolerant from intolerant, ACMG American college medical genetics and genomics criteria
  2. *Indicates at which codon position the new reading frame ends in a stop codon
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BMC Neurology

ISSN: 1471-2377

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