Table 1.
Top missense variants prioritized using the FCVPPv2.
| Family ID | Position (Hg 19) | Gene | Effect | CADD PHRED | Int (n/3) | Del (n/10) | VarSome Score |
|---|---|---|---|---|---|---|---|
| Family_1 | 17_48746518_C_T | ABCC3 | p.P652L | 22.6 | 2 | 7 | Uncertain significance |
| Family_1 | 1_49052793_G_A | AGBL4 | p.R384C | 35 | 2 | 7 | Uncertain significance |
| Family_1 | 5_139909090_A_G | ANKHD1, ANKHD1-EIF4EBP3 | p.N2187D | 25.2 | . | 6 | Uncertain significance |
| Family_1 | 1_160164884_T_C | CASQ1 | p.I183T | 26.5 | 2 | 10 | Likely Benign |
| Family_1 | 14_95560456_A_C | DICER1 | p.I1711M | 24 | 3 | 7 | Uncertain significance |
| Family_1 | 6_159206584_G_A | EZR | p.P75L | 32 | 3 | 9 | Uncertain significance |
| Family_1 | 12_8192537_G_A | FOXJ2 | p.G37R | 29.9 | 3 | 9 | Uncertain significance |
| Family_1 | 14_88729713_C_T | KCNK10 | p.A79T | 27.1 | 3 | 6 | Uncertain significance |
| Family_1 | 10_88705360_G_A | MMRN2 | p.P58L | 29.8 | 2 | 7 | Uncertain significance |
| Family_1 | 5_36962227_G_A | NIPBL | p.R154Q | 27.5 | 3 | 8 | Uncertain significance |
| Family_1 | 2_206614449_A_G | NRP2 | p.D596G | 23.1 | 2 | 9 | Uncertain significance |
| Family_1 | 1_45268632_C_T | PLK3 | p.T252M | 25.3 | 3 | 6 | Uncertain significance |
| Family_1 | 19_45515485_T_C | RELB | p.I152T | 26 | 3 | 6 | Uncertain significance |
| Family_1 | 6_52372363_G_C | TRAM2 | p.A205G | 29.8 | 3 | 10 | Uncertain significance |
| Family_1 | 22_18613830_C_T | TUBA8 | p.A450V | 24.7 | 3 | 10 | Uncertain significance |
| Family_1 | X_47272364_G_A | ZNF157 | p.G298R | 27.6 | 2 | 6 | Uncertain significance |
| Family_2 | 9_116151739_G_C | ALAD | p.I243M | 22.9 | 2 | 6 | Uncertain significance |
| Family_2 | 9_131196759_G_T | CERCAM | p.A468S | 24.5 | 2 | 7 | Uncertain significance |
| Family_2 | 9_131367689_C_T | SPTAN1 | p.R1327C | 34 | 3 | 6 | Uncertain significance |
| Family_3 | 9_139917418_C_T | ABCA2 | p.G83S | 26.3 | 2 | 7 | Uncertain significance |
| Family_3 | 17_40971572_G_C | BECN1 | p.P85R | 23.4 | 3 | 6 | Uncertain significance |
| Family_3 | 8_67968830_G_T | COPS5 | p.P131T | 23.9 | 3 | 9 | Uncertain significance |
| Family_3 | 3_5246773_C_T | EDEM1 | p.T160M | 34 | 3 | 9 | Uncertain significance |
| Family_3 | 6_131191103_G_A | EPB41L2 | p.S736F | 22.1 | 3 | 7 | Uncertain significance |
| Family_3 | 8_28575243_G_A | EXTL3 | p.R172H | 23 | 3 | 6 | Likely Benign |
| Family_3 | 3_188123979_A_T | LPP | p.E24V | 32 | 2 | 6 | Uncertain significance |
| Family_3 | 14_74970734_C_T | LTBP2 | p.G1493R | 27.7 | 3 | 10 | Uncertain significance |
| Family_3 | 3_196730925_C_A | MFI2 | p.D662Y | 34 | 3 | 6 | Uncertain significance |
| Family_3 | 17_27441099_G_A | MYO18A | p.A843V | 24.3 | 3 | 6 | Uncertain significance |
| Family_3 | 19_14584756_A_G | PTGER1 | p.L126P | 25.9 | 2 | 6 | Uncertain significance |
| Family_3 | 3_49138083_G_A | QARS | p.R301C | 34 | 2 | 9 | Uncertain significance |
| Family_3 | 17_33428327_G_A | RAD51D,RAD51L3-RFFL | p.R266C | 27 | 3 | 8 | Benign |
| Family_3 | 11_9838541_C_T | SBF2 | p.R1275H | 33 | 2 | 9 | Likely Benign |
| Family_3 | 9_17761502_A_G | SH3GL2 | p.N14S | 26.1 | 3 | 9 | Uncertain significance |
| Family_3 | 20_35467682_G_A | SOGA1 | p.R46C | 32 | 3 | 7 | Uncertain significance |
| Family_3 | 1_43891311_G_A | SZT2 | p.A96T | 31 | 3 | 6 | Uncertain significance |
Chromosomal positions, classifications, PHRED-like CADD scores, protein changes and the number of positive intolerance (Int) and deleteriousness (Del) scores are shown for each variant. Variants of interest that were validated by Sanger sequencing in the provided family samples have been shown in bold.