Table 2.
Rare variants identified in PLOD3 gene in the cohort of 113 ICH fetuses
| Fetus | HGVSc position (NM_001084.5) | Protein change | Variant class | Status | gnomAD, v.2.1 |
PolyPhen-2 prediction | ACMG class |
|---|---|---|---|---|---|---|---|
| AF (%) | |||||||
| F09 | c.593T>C | p.(L198P) | Missense | HTZ | 0.0004 | Probably damaging (0.994) | 3 |
| F12a | c.589C>T | p.(R197W) | Missense | HTZ | 0.0012 | Possibly damaging (0.735) | 3 |
| F12a | c.1466C>T | p.(P489L) | Missense | HTZ | 0.051 | Possibly damaging (0.769) | 3 |
Abbreviations: ACMG, American College of Medical Genetics and Genomics; AF, allele frequency; HTZ, heterozygous.
ClinVar accession numbers: SCV002558784 (p.L198P), SCV002558785 (p.R197W), and SCV002558786 (p.P489L).
a
Biallelic variants (inherited from each parent).