Table 2.
Variants and genotypes of patients with uncertain significance genotype (n = 35)
| ID patients | Gene | mutation c. | mutation p. | rs ID | MAF (GnomAD) | Zygosity | Interpretation |
|---|---|---|---|---|---|---|---|
| Sanger strategy | |||||||
| 9 | NLRP3 | c.592G>A | p.(Val198Met) | rs121908147 | 0.008460 | Heterozygous | VUS |
| 70 | NLRP3 | c.592G>A | p.(Val198Met) | rs121908147 | 0.008460 | Heterozygous | VUS |
| 81 | TNFRSF1A | c.362G>A | p.(Arg121Gln) | rs4149584 | 0.01290 | Heterozygous | VUS |
| 109 | ADA2 | c.139G>A | p.(Gly47Arg) | rs202134424 | 2.437e‐5 | Heterozygous | HTZ‐MAR |
| 113 | MEFV | c.2230G>T | p.(Ala744Ser) | rs61732874 | 0.001753 | Heterozygous | HTZ‐MAR |
| 121 | NOD2 | c.1177C>T | p.(Arg393Cys) | rs140716236 | 0.0001479 | Heterozygous | VUS |
| 122 | TNFRSF1A | c.362G>A | p.(Arg121Gln) | rs4149584 | 0.01290 | Heterozygous | VUS |
| 127 | MEFV | c.1772T>C | p.(Ile591Thr) | rs11466045 | 0.01082 | Heterozygous | VUS |
| 136 | NOD2 | c.2883‐2A>G | SAV | rs564226539 | 2.442e‐5 | Heterozygous | VUS |
| 164 | MEFV | c.2080A>G | p.(Met694Val) | rs61752717 | 0.0002669 | Heterozygous | HTZ‐MAR |
| 206 | MEFV | c.1772T>C | p.(Ile591Thr) | rs11466045 | 0.01082 | Heterozygous | VUS |
| 232 | MEFV | c.2084A>G | p.(Lys695Arg) | rs104895094 | 0.005894 | Heterozygous | HTZ‐MAR |
| NLRP3 | c.2107C>A | p.(Gln703Lys) | rs35829419 | 0.03861 | Heterozygous | VUS | |
| 233 | MEFV | c.2084A>G | p.(Lys695Arg) | rs104895094 | 0.005894 | Heterozygous | HTZ‐MAR |
| 237 | MEFV | c.2080A>G | p.(Met694Val) | rs61752717 | 0.0002669 | Heterozygous | HTZ‐MAR |
| 275 | MEFV | c.2080A>G | p.(Met694Val) | rs61752717 | 0.0002669 | Heterozygous | HTZ‐MAR |
| NGS strategy | |||||||
| 5 | MEFV | c.1105C>T | p.(Pro369Ser) | rs11466023 | 0.01471 | Heterozygous | VUS |
| 19 | NLRP3 | c.592G>A | p.(Val198Met) | rs121908147 | 0.008460 | Heterozygous | VUS |
| 31 | IL10RA | c.883C>T | p.(Pro295Ser) | rs201777547 | 0.0001912 | Heterozygous | HTZ‐MAR |
| 99 | NLRP3 | c.592G>A | p.(Val198Met) | rs121908147 | 0.008460 | Heterozygous | VUS |
| 105 | AP1S3 | c.318T>A | p.(Asn106Lys) | n.a. | n.a. | Heterozygous | VUS |
| NOD2 | c.2507T>C | p.(Ile836Thr) | rs763192145 | 4.062e‐5 | Heterozygous | VUS | |
| 113 | TNFRSF1A | c.362G>A | p.(Arg121Gln) | rs4149584 | 0.01290 | Heterozygous | VUS |
| 129 | NLRP3 | c.404G>A | p.(Arg135His) | n.a. | n.a. | Heterozygous | VUS |
| 133 | MEFV | c.442G>C | p.(Glu148Gln) | rs3743930 | 0.06564 | Heterozygous | VUS |
| NLRP3 | c.2107C>A | p.(Gln703Lys) | rs35829419 | 0.03861 | Heterozygous | VUS | |
| 135 | MEFV | c.442G>C | p.(Glu148Gln) | rs3743930 | 0.06564 | Heterozygous | VUS |
| MEFV | c.1105C>T | p.(Pro369Ser) | rs11466023 | 0.01471 | Heterozygous | VUS | |
| 138 | NOD2 | c.2883‐2A>G | SAV | rs564226539 | 2.442e‐5 | Heterozygous | VUS |
| 139 | NLRP3 | c.1556T>C | p.(Ile519Thr) | n.a. | n.a. | Heterozygous | VUS |
| 151 | NOD2 | c.2050C>T | p.(Arg684Trp) | rs5743276 | 0.0003952 | Heterozygous | VUS |
| NOD2 | c.2722G>C | p.(Gly908Arg) | rs2066845 | 0.01085 | Heterozygous | VUS | |
| NOD2 | c.3056G>T | p.(Arg1019Leu) | rs5743295) | 3.972e‐5 | Heterozygous | VUS | |
| IL10RA | c.698T>G | p.(Val233Gly) | rs138929400 | 0.001378 | Heterozygous | HTZ‐MAR | |
| 183 | CARD14 | c.2870_2872delAGG | p.(Glu957del) | n.a. | 3.23e‐5 | Heterozygous | VUS |
| 187 | PSTPIP1 | c.203C>T | p.(Thr68Met) | rs201872851 | 0.001518 | Heterozygous | VUS |
| 225 | PSTPIP1 | c.1213C>T | p.(Arg405Cys) | rs201253322 | 0.0005487 | Heterozygous | VUS |
| 231 | ADAR | c.3401A>G | p.(Tyr1134Cys) | rs150284449 | 9.74e‐5 | Heterozygous | HTZ‐MAR |
| MEFV | c.442G>C | p.(Glu148Gln) | rs3743930 | 0.06564 | Heterozygous | VUS | |
| PSTPIP1 | c.1213C>T | p.(Arg405Cys) | rs201253322 | 0.0005487 | Heterozygous | VUS | |
| 232 | NLRP3 | c.2107C>A | p.(Gln703Lys) | rs35829419 | 0.03861 | Heterozygous | VUS |
| TNFRSF1A | c.362G>A | p.(Arg121Gln) | rs4149584 | 0.01290 | Heterozygous | VUS | |
| 235 | MEFV | c.442G>C | p.(Glu148Gln) | rs3743930 | 0.06564 | Heterozygous | VUS |
| NLRP12 | c.1054C>T | p.(Arg352Cys) | rs199881207 | 0.0003863 | Heterozygous | VUS | |
| 236 | MEFV | c.2080A>G | p.(Met694Val) | rs61752717 | 0.0002669 | Heterozygous | HTZ‐MAR |
| 241 | RNASEH2B | c.529G>A | p.(Ala177Thr) | rs75184679 | 0.001361 | Heterozygous | HTZ‐MAR |
HTZ‐MAR = heterozygous mutation associated with autosomal recessive disorders; SAV = splice acceptor variant; n.a. = not available; VUS = variants of uncertain significance.