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Table 2 Novel variants associated with patient conditions

From: Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods

Gene

Nucleotide substitution

Amino acid substitution

Mutation taster

SIFT

Polyphen-2

Mutation assessor

GERP++

1000G

ExAC

gnomAD

SLC25A3

c.1427G > A

p.R476Q

Disease_causing

Damaging

Benign

Medium

3.75

-

0.0000160

0.0000122

MTHFR

c.591C > G

p.Y197*

Disease_causing

-

-

-

4.07

-

-

-

  1. Note: Pathogenicity analysis was done as per ACMG standards
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172