Table 3 ETFDH variants identified in the SA MADD cohort
From: Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
Variant GRCh38.p13 | Exon | Protein GRCh38.p13 | Protein domain | rsID | ACMG classification | Allele frequencies (%) | |||
|---|---|---|---|---|---|---|---|---|---|
gnomAD†| H3Africa | This study | |||||||
c.[287dupA*] | 3/13 (ENSE00003628977) | p.[Asp97Glyfs*24] | FAD-binding | – | Likely pathogenic | AF | – | – | – |
E | – | – | – | ||||||
AS + I | – | – | – | ||||||
M | – | – | – | ||||||
c.[740G > T] | 7/13 (ENSE00001126657) | p.[Gly247Val] | FAD-binding | rs1384574225 | Likely pathogenic | AF | 0 | – | – |
E | 0 | – | – | ||||||
AS + I | 0 | – | – | ||||||
M | 0 | – | – | ||||||
c.[976G > C] | 9/13 (ENSE00001126640) | p.[Gly326Arg] | Ubiquinone-binding | – | Uncertain significance | AF | – | – | – |
E | – | – | – | ||||||
AS + I | – | – | – | ||||||
M | – | – | – | ||||||
c.[1067G > A] | 9/13 (ENSE00001126640) | p.[Gly356Glu] | Ubiquinone-binding | – | Likely pathogenic | AF | – | – | < 0.00067 |
E | – | – | < 0.00067 | ||||||
AS + I | – | – | < 0.00067 | ||||||
M | – | – | < 0.00084 | ||||||
c.[1448C > T] | 11/13 (ENSE00003510567) | p.[Pro483Leu] | Carboxy-terminal | rs377656387 | Pathogenic | AF | 0 | – | < 0.00067 |
E | 0.00004 | – | < 0.00067 | ||||||
AS + I | 0.00003 | – | < 0.00067 | ||||||
M | 0 | – | < 0.00084 | ||||||