Table 1 Details on genetic variants.

From: Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

Individual

Nucleotide change NM_004341.5

Predicted protein change

ACMG rating

gnomAD allele frequencya

F1:II.2, F1:II.3, F3:II.4, UP3.1, UP3.2, UP4

c.98T>G

p.Met33Arg

LPTH

4.1e-6

FiN

c.108delC

p.Tyr36Tyrfs*15

PTH

Not listed

UP10

c.178T>C

p.Tyr60His

VUS

Not listed

UP9

c.223-2A>G

p.?

PTH

Not listed

UDP4003

c.1843-1G>A

p.?

PTH

Not listed

F2:II.2

c.1843-3C>T

p?

PTH

Not listed

UP1.1, UP1.2

c.2900A>G

p.Tyr967Cys

PTH

4.38e-5

UP7

c.2284G>A

p.Val762Ile

VUS

3.98e-6

UP2

c.2617_2620delGACA

p.Asp873Asnfs*8

PTH

Not listed

UP7

c.2843G>A

p.Ser948Asn

VUS

3.98e-6

UP8

c.2995G>A

p.Val999Met

VUS

Not listed

UP6.1, UP6.2

c.3194G>A

p.Trp1065*

PTH

Not listed

FiN

c.3775G>A

p.Val1259Met

LPTH

Not listed

UP5

c.4397-209T>G

p.Pro1465_Gly1466ins40

LPTH

Not listed

F2:II.2

c.5365C>T

p.Arg1789*

PTH

1.06e-5

F9

c.5366G>A

p.Arg1789Gln

VUS

Not listed

UP2, UP9

c.5429G>A

p.Arg1810Gln

LPTH

3.52e-4

UP6.1, UP6.2

c.5860G>A

p.Glu1954Lys

LPTH

Not listed

UP5, UDP4003

c.6071G>A

p.Arg2024Gln

LPTH

1.43e-5

  1. ACMG American College of Medical Genetics and Genomics, LPTH likely pathogenic, PTH pathogenic, VUS variant of unknown significance.
  2. aNone of the listed variants were found in homozygous state.
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