Table 2 Variants of uncertain significance favor pathogenic detected in this study.
Case ID | Indications | Gestational age (weeks) | Gene | Variant | Zygosity | AF (gnomAD) | Type of variant | OMIM diseases and inheritance | Disease category |
|---|---|---|---|---|---|---|---|---|---|
PL005 | Fetal demise | 13 | FGFR2 | NM_000141:c.182G>A, p.(Arg61His) | Het | 1/61546 | Mis | FGFR2-related syndrome, AD | Skeletal dysplasia |
PL019 | Fetal demise, multiple anomalies | 22 4/7 | FBN1 | NM_000138:c.7999G>A, p.(Glu2667Lys) | Het | 1/30250 | Mis | Marfan syndrome; AD | Multisystem |
PL029 | Embryonic demise | 10 | MIB1 | NM_020774:c.351dupA, p.(His118Thrfs*16) | Het | 0 | FS | Left ventricular noncompaction 7; AD | Cardiac anomaly |
SHOC2 | NM_007373:c.241A>G, p.(Thr81Ala) | Het | 1/35826 | Mis | Noonan syndrome–like with loose anagen hair; AD | Rasopathy | |||
PL032 | Fetal demise | 22 | HACE1 | NM_020771:c.212T>C, p.(Ile71Thr) | Homo | 0 | Mis | Spastic paraplegia and psychomotor retardation with or without seizures; AR | Neurodevelopmental disorder |
PL034 | Missed abortion | 18 | NIPBL | NM_133433:c.1927A>G, p.(Lys643Glu) | Het | 0 | Mis | Cornelia de Lange syndrome 1; AD | Multisystem |
PL037 | Fetal demise | Unknown | SOS1 | NM_005633:c.205G>A, p.(Asp69Asn) | Het | 0 | Mis | Noonan syndrome 4; AD | Rasopathy |
TTC21B | NM_024753:c.511G>A, p.(Gly171Arg) | Homo | 1/3400 | Mis | Short-rib thoracic dysplasia 4 with or without polydactyly; AR | Multisystem | |||
PL038 | Missed abortion, fetal anomalies | 23 6/7 | TSC2 | NM_000548.3:c.1946+5G>T | Het | 0 | SpR | Tuberous sclerosis 2; AD | Multisystem |
PL039 | Fetal demise | 21 2/7 | SYNGAP1 | NM_006772:c.773G>A, p.(Arg258His) | Het | 1/81822 | Mis | Mental retardation, autosomal dominant 5; AD | Neurodevelopmental disorder |
PL071 | Fetal anomaly | 21 | COQ2 | NM_015697:c.662T>C, p.(Leu221Pro) | Homo | 1/124388 | Mis | Coenzyme Q10 deficiency, primary, 1; AR | Enzyme/metabolic |
PL075 | PRROM | 20 5/7 | SCN5A | NM_198056:c.1933T>G, p.(Ser645Ala) | Het | 0 | Mis | SCN5A-related disorders; AD/AR | Arrhythmia |
PL080 | Fetal demise | Unknown | JAG1 | NM_000214:c.218C>G, p.(Thr73Arg) | Het | 0 | Mis | Alagille syndrome 1, AD; tetralogy of Fallot, AD | Multisystem |
PL083 | Fetal demise | 14 3/7 | IDS | NM_000202:c.778C>T, p.(Pro260Ser) | Hemi | 0 | Mis | Mucopolysaccharidosis II; XLR | Enzyme/metabolic |
PL090 | Fetal demise | 11 3/7 | CSRP3 | NM_003476:c.3G>A, p.? | Het | 0 | SL | Cardiomyopathy, dilated, 1M; AD | Cardiac anomaly |
NIPBL | NM_133433:c.193C>G, p.(Leu65Val) | Het | 0 | Mis | Cornelia de Lange syndrome 1; AD | Multisystem | |||
PL094 | Fetal demise | 15 1/7 | COL1A1 | NM_000088:c.4024G>A, p.(Gly1342Ser) | Het | 1/81771 | Mis | Osteogenesis imperfecta I; AD | Skeletal dysplasia |
