Table 1B.
Variants of uncertain significance [further studies required to confirm relationship between variant(s) and patient's phenotype].
| P | S | GENE | INH | ZYG | VFS | FH | ClinVar | dbSNP | MAF | TYPE | ISP | GERP | Ref seq | Variant |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FUNCTIONAL VALIDATION REQUIRED | ||||||||||||||
| 248 | F | SCN9A | AD | HT | TRANS | – | – | rs180949263 | 0.0002 | MISS | 0.55 | 3.34 | NM_002977.3 | c.5672G>A/p.R1891H |
| SCN9A | AD | HT | – | B/LB | rs202084411 | 0.0024 | MISS | 0.53 | 4.47 | NM_002977.3 | c.4612T>C/p.W1538R | |||
| CHD2 | AD | HT | MAT | – | – | – | – | MISS | 0.53 | 5.69 | NM_001271.3 | c.4564G>A/p.D1522N | ||
| 918 | M | MTOR | AD | HT | PAT | – | – | rs1390645065 | 8.9E-106 | MISS | 0.52 | 5.89 | NM_004958.3 | c.7249G>A/p.V2417M |
| MTOR | AD | HT | MAT | – | – | rs201557303 | 0.0002 | MISS | 0.42 | 4.91 | NM_004958.3 | c.5197G>A/p.A1733T | ||
| 1084 | M | MTOR | AD | HT | PAT | – | – | – | – | MISS | 0.51 | 4.78 | NM_004958.3 | c.126G>T/p.K42N |
| 1144 | M | TSC2 | AD | HT | PAT | – | – | – | – | MISS | 0.59 | 5.51 | NM_000548.4 | c.1724T>C/p.L575P |
| INCOMPLETE PENETRANCE | ||||||||||||||
| 754 | M | GABRB1 | AD | HT | MAT | – | LP | rs1135401786 | – | MISS | 0.75 | 3.29 | NM_000812.3 | c.157C>T; p.R53W |
| 938 | F | GABRB1 | AD | HT | MAT | – | – | – | – | MISS | 0.53 | 5.43 | NM_000812.3 | c.775A>G/p.I259V |
| 703 | M | SCN2A | AD | HT | PAT | – | – | – | – | MISS | 0.67 | 3.68 | NM_001040142.1 | c.5551C>T/p.R1851W |
| 801 | F | SCN1A | AD | HT | MAT | – | US | rs184524479 | 0.00019 | MISS | 0.49 | 4.33 | NM_001165963.1 | c.1604G>A/p.R535H |
| RBFOX1 | AD | HT | MAT | – | – | rs1287710352 | 8.9E-106 | MISS | 0.41 | 5.86 | NM_145891.2 | c.983A>G/p.K328R | ||
| 1119 | F | SYN1 | XL | HT | PAT | – | – | – | – | MISS | 0.65 | 4.88 | NM_006950.3 | c.718G>A/p.G240R |
| 650 | M | FOXG1 | AD | HT | PAT | – | – | – | – | MISS | 0.63 | 3.69 | NM_005249.4 | c.655C>G/p.R219G |
| 1008 | M | KCNT1 | AD | HT | MAT | – | – | – | – | MISS | NA | 4.46 | NM_020822.2 | c.2912_2913delinsAT/p. (S971N) |
| 268 | M | KCNT1 | AD | HT | PAT | – | – | – | – | MISS | 0.59 | 3.54 | NM_020822.2 | c.1421G>T/p.R474L |
| PLAUSIBLE OLIGOGENIC INHERITANCE | ||||||||||||||
| 13 | M | SCN1A | AD | HT | MAT | – | B/LB | rs121917956 | 0.002 | MISS | 0.58 | 4.89 | NM_001165963.1 | c.5749C>G/p.R1917G |
| CLCN2 | AR,AD | PAT | – | LB | rs61729156 | 0.0068 | MISS | 0.53 | 2.83 | NM_004366.5 | c.203G>A/p.R68H | |||
| 141 | F | SCN1A | AD | HT | PAT | – | - | rs1226308717 | - | MISS | 0.54 | 5.44 | NM_001165963.1 | c.3376A>G/p.N1126D |
| SCN1A | AD | HT | PAT | – | B/LB | rs121917956 | 0.002 | MISS | 0.58 | 4.89 | NM_001165963.1 | c.5782C>G/p.R1928G | ||
| KCNT1 | AD | HT | MAT | – | LB | rs148162797 | 0.0008 | MISS | 0.57 | −7.76 | NM_020822.2 | c.2220C>G/p.D740E | ||
| 396 | M | SCN1A | AD | HT | NA | – | B/LB | rs121917956 | 0.002 | MISS | 0.58 | 4.89 | NM_001165963.1 | c.5749C>G/p.R1917G |
| CLCN2 | AD | HT | NA | – | – | rs202031742 | 1.5E-105 | MISS | 0.47 | 4.07 | NM_004366.5 | c.368C>T/p.S123F | ||
| 1113 | M | HCN1 | AD | HT | NA | – | – | rs1462729387 | 4.1E-106 | MISS | 0.45 | 3.63 | NM_021072.3 | c.2269A>G/p.T757A |
| KCNT1 | AD | HT | NA | – | CIP | rs201156458 | 0.00028 | MISS | 0.40 | 4.08 | NM_020822.2 | c.3256G>A/p.G1086R | ||
| CACNA1H | AD | HT | NA | – | LB | rs187596702 | 0.00040 | MISS | 0.49 | 3.52 | NM_021098.2 | c.385G>A/p.G129S | ||
| 968 | F | SCN1A | AD | HT | MAT | – | – | – | – | MISS | 0.63 | 5.18 | NM_001165963.1 | c.2785C>T/ p.L929F |
| SLC12A5 | AD | HT | NA | – | – | – | – | MISS | 0.59 | 3.47 | NM_001134771.1 | c.3343G>A/ p.E1115K | ||
| CACNA1A | AD | HT | PAT | – | US | rs200850308 | 8.2e-05 | MISS | 0.56 | 5.19 | NM_023035.2 | c.3179G>A | ||
| 379 | F | SCN2A | AD | HT | NA | – | CIP | rs149987700 | 0.0003 | MISS | 0.56 | 5.29 | NM_001040142.1 | c.952G>A/p.E318K |
| SCN7A | – | – | rs146072866 | 0.001 | MISS | 0.58 | −0.257 | NM_002976.3 | c.2431A>G/p.S811G | |||||
| DATA FROM PROGENITORS UNAVAILABLE: DE NOVO MUTATION STATUS UNCONFIRMED | ||||||||||||||
| 1038 | M | SCN8A | AD | HT | NA | + | – | – | – | MISS | 0.50 | 4.96 | NM_014191.3 | c.4633A>C/ p.T1545P |
| 981 | HCN1 | AD | HT | NA | – | – | – | – | MISS | 0.58 | 5.37 | NM_021072.3 | c.715G>T p.V239L | |
| 738 | F | FOXG1 | AD | HT | NA | – | – | – | – | MISS | 0.42 | 1.65 | NM_005249.4 | c.458G>T/p.G153V |
| 887 | M | SCN1A | AD | HT | NA | – | – | rs777120925 | 7.49e-05 | MISS | 0.54 | 4.75 | NM_001165963.1 | c.1457C>G/p.A486G |
| CHRNA4 | AD | HT | NA | – | – | – | – | MISS | 0.69 | 5.06 | NM_000744.6 | c.803C>T/p.P268L | ||
| 523 | F | STXBP1 | AD | HT | NA | – | P | rs746172968 | 8,2E-106 | MISS | 0.53 | 5.27 | NM_003165.3 | c.1756G>A/p.D586N |
| SIK1 | AD | HT | NA | – | – | – | – | MISS | 0.59 | 3.93 | NM_001320643.1 | c.1829G>Tp.R610L | ||
| 676 | M | HECW2 | AD | HT | NA | – | – | – | – | MISS | 0.46 | 2.43 | NM_020760.2 | c.3939C>G/p.I1313M |
| GABRB1 | AD | HT | NA | – | – | – | – | MISS | 0.65 | 1.96 | NM_000812.3 | c.1017G>C/p.K339N | ||
| GABBR2 | AD | HT | NA | – | – | – | – | MISS | 0.68 | 5.64 | NM_005458.7 | c.1858C>A/p.P620T | ||
| 1029 | M | GRIA3 | XLR | HE | NA | – | – | – | – | MISS | 0.41 | 5.52 | NM_000828.4 | c.793G>A/p.A265T |
| 1099 | M | HECW2 | AD | HT | NA | – | – | – | – | MISS | 0.44 | 5.10 | NM_020760.2 | c.900C>A/p.S300R |
| 884 | F | ARHGEF9 | XL | HT | NA | – | – | – | – | MISS | 0.49 | 5.46 | NM_015185.2 | c.1454G>T/p.G485V |