Table 2. Genetic profile of the 20 validation set samples.
| Variant | |||||
|---|---|---|---|---|---|
| Patient (syndrome) | Gene | Nucleotide | Amino acid | Classification | MAFa |
| 1 (CFCS) | BRAF | c.1502A>G | p.(Glu501Gly) | Disease causing6 | — |
| 2 (NS) | PTPN11 | c.218C>T | p.(Thr73Ile) | Disease causing35 | — |
| 3 (NS) | PTPN11 | c.854T>C | p.(Phe285Ser) | Disease causing35 | — |
| 4 (NS) | PTPN11 | c.922A>G | p.(Asn308Asp) | Disease causing36 | — |
| 5 (NS) | PTPN11 | c.922A>G | p.(Asn308Asp) | Disease causing36 | — |
| 6 (NS) | PTPN11 | c.923A>G | p.(Asn308Ser) | Disease causing35 | — |
| 7 (NS) | PTPN11 | c.1403C>T | p.(Thr468Met) | Disease causing37 | — |
| 8 (NS) | PTPN11 | c.1403C>T | p.(Thr468Met) | Disease causing37 | — |
| 9 (NS) | RAF1 | c.770C>T | p.(Ser257Leu) | Disease causing38 | — |
| 10 (NS) | RAF1 | c.782C>T | p.(Pro261Leu) | Disease causing38 | — |
| 11 (NS) | SHOC2 | c.4A>G | p.(Ser2Gly) | Disease causing39 | — |
| 12 (NS) | RIT1 | c.270G>A | p.(Met90Ile) | Disease causing12 | — |
| A2ML1 | c.289C>G | p.(Arg97Gly) | VUS | 0.001 | |
| 13 (NS) | PTPN11 | c.785T>G | p.(Leu262Arg) | Disease causing40 | — |
| A2ML1 | c.861C>A | p.(Asp287Glu) | VUS | 0.003 | |
| 14 (NS) | A2ML1 | c.619G>C | p.(Gly207Arg) | VUS | 0.020 |
| A2ML1 | c.1109T>C | p.(Phe370Ser) | VUS | 0.019 | |
| CBL | c.2345C>T | p.(Pro782Leu) | VUS | 0.000 | |
| SOS1 | c.3347-1G>A | — | VUS | 0.000 | |
| 15 (NS) | A2ML1 | c.1918G>A | p.(Asp640Asn) | VUSb | 0.000 |
| 16 (NS) | A2ML1 | c.3287C>T | p.(Ser1096Phe) | VUSb | 0.000 |
| 17 (NS) | CBL | c.1463C>T | p.(Ala488Val) | VUS | 0.012 |
| 18 (NS) | CBL | c.1711G>A | p.(Asp571Asn) | VUSb | 0.000 |
| SOS1 | c.2138G>A | p.(Arg713Gln) | VUSb | 0.000 | |
| 19 (NS) | — | — | — | — | — |
| 20 (NS) | — | — | — | — | — |
Abbreviations: MAF, minor allele frequency; VUS, variant of unknown significance.
a
MAF from 1000 Genomes project.
b
No rs-identifier is known for this variant, nor has it been observed in 1000 Genomes project and/or ESP.