TABLE 2.
Identification of unknown variants in patients with suspected FH.
| patient ID | 5 | 6 | 7 | 8 | 9 | 10 |
|---|---|---|---|---|---|---|
| age | 38 | 6 | 40 | 44 | 13 | 6 |
| sex | F | M | M | F | F | F |
| ethnicity | German | German | German | German | Turkish | Lebanese |
| TC (mmol/L) | 7.62 | 14.86 | 7.88 | 12.67 | 14.86 | 20.61 |
| LDL-C (mmol/L) | 5.81 | 13.52 | 6.46 | 9.59 | 13.26 | 18.69 |
| genetic change | c.1916T>A | c.1916T>A c.1844A>G | c.1844A>G | c.653del | c.1474G>A | c.1729T>C |
| exon | 13 | 13/12 | 12 | 4 | 10 | 12 |
| amino acid change | p.(Val639Asp) | p.(Val639Asp) p.(Glu615Gly) | p.(Glu615Gly) | p.(Gly218ValfsTer47) | p.(Asp492Asn) | p.(Trp577Arg) |
| protein consequence | missense variant | missense variant | missense variant | frame shift | missense variant | missense variant |
| zygosity (%) | heterozygous (46.2) | compound heterozygous (49.7/46.6) | heterozygous (46.0) | heterozygous (48.5) | homozygous (95.4) | homozygous (86.6) |
| dbSNP reference | rs794728584 | rs794728584/– | — | rs137853966 | rs373646964 | rs879255000 |
| pathogenicity | likely pathogenic | likely pathogenic/– | — | pathogenic | pathogenic | pathogenic |
| SIFT Sim et al. (2012) | deleterious | deleterious/deleterious | deleterious | — | deleterious | deleterious |
| polyphen2 Adzhubei et al. (2010) | benign | benign/probably damaging | probably damaging | — | probably damaging | probably damaging |
| PROVEAN protein Choi and Chan (2015) | deleterious | deleterious/deleterious | deleterious | — | deleterious | deleterious |
| mutation-taster Steinhaus et al. (2021) | disease causing | disease causing/disease causing | disease causing | disease causing | disease causing | disease causing |
TC, total cholesterol; LDL-C, low-density lipoprotein cholesterol.