TABLE 1.
Rare upSNVs in CVD-related diseases.
| Gene (orientation) | cDNA position | Predicted effect | Disease | Databases | Classification (ClinVar) | References |
| HBB (−1) | NM_000518.5 c.-29G>A | uoORF (42 nts) | β-Thalassaemia | ClinVar | Pathogenic | 1, 16 |
| CFTR (1) | NM_000492.3 c.-34C>T | uoORF (108 nts) | Disseminated bronchiectasis | HGMD, ClinVar | Conflicting interpretations of pathogenicity | 19 |
| ENG (−1) | NM_001114753.3 c.-142A>T | uoORF (270 nts) | Hereditary Haemorrhagic TelangiectasiaT | NA | NA | 77 |
| ENG (−1) | NM_001114753.3 c.-127C>T | uoORF (255 nts) | HGMD | Pathogenic/Likely pathogenic | 18, 35, 77 | |
| ENG (−1) | NM_001114753.3 c.-10C>T | uoORF (138 nts) | HGMD | Likely pathogenic | 34 | |
| ENG (−1) | NM_001114753.3 c.-9G>A | eCDS (+ 3 nts) | HGMD | Conflicting interpretations | 35 | |
| ENG (−1) | NM_001114753.3 c.-79C>T | uoORF (207 nts) | NA* | ClinVar | Uncertain significance | NA |
| PROS1 (−1) | NM_000313.4 c.-39C>T | uoORF (156 nts) | Protein S deficiency | NA | NA | 27 |
| F8 (−1) | NM_000132.4 c.-5A>G | uoORF (63 nts) | Hemophilia A | HGMD | NA | 20 |
| HAMP (1) | NM_021175.4 c.-25G>A | uAUG** | Juvenile Hereditary Hemochromatosis | HGMD | NA | 15, 17 |
| LDLR (1) | NM_000527.5 c.-22delC | uoORF (174 nts) | Familial Hypercholesterolaemia | ClinVar | Uncertain significance | 22, 41 |
uoORF, upstream overlapping Open Reading Frame; eCDS, elongated coding sequence; nts, nucleotides; NA, non-available.
*This variant is reported in ClinVar without any clinical annotation (https://www.ncbi.nlm.nih.gov/clinvar/variation/618621/?new_evidence=false).
**No in frame stop codon predicted.