Table 1.
List of the potentially interesting DNA variants identified in the proband after exome sequencing data analysis.
| Chr | Gene | cDNA * | Protein * | Reference SNP ID | Status | Inheritance | Associated Phenotype † | Clinvar Classification | ACMG/AMP § Classification |
|---|---|---|---|---|---|---|---|---|---|
| 1 | MTHFR | c.788C>T | p.Ala263Val | rs1801133 | Het | F | Homocystinuria due to MTHFR deficiency—AR Neural tube defects, susceptibility to—AR Schizophrenia, susceptibility to—AD Thromboembolism, susceptibility to—AD Vascular disease, susceptibility to—AD |
Drug response | VUS |
| 11 | HBG1 | c.-29G>A | rs368698783 | Het | F | Fetal hemoglobin quantitative trait locus 1—AD | Pathogenetic | Benign | |
| 11 | ACTN3 | c.1729C>T | p.Arg577Ter | rs1815739 | Hom | F + M | Alpha-actinin-3 deficiency—AR Sprinting performance—AR |
VUS | VUS |
| 12 | PAH | c.898G>T | p.Ala300Ser | rs5030853 | Het | M | Phenylketonuria AR | Pathogenetic | Pathogenetic |
| 17 | MPO | c.2031-2A>C | rs35897051 | Het | F | Myeloperoxidase deficiency—AR Alzheimer’s disease, susceptibility to—AD |
Pathogenetic | Pathogenetic |
* According to Human Genome Variation Society (HGVS) guidelines; † According to MedGen database; § ACMG, American College of Medical Genetics, and AMP, Association for Molecular Pathology. SNP, single nucleotide polymorphism; ID, identifier; Het, heterozygous; Hom, homozygous; F, father; M, mother; AR, autosomal recessive; AD, autosomal dominant; VUS, variant of unknown significance.