Table 3 Results of known arrhythmia-, inherited metabolic disease-, mitochondrial disease-, and salt-losing tubulopathy-related variants.
Case | Gene | Variant | Coordinate | Amino Acids | Zygosity | Heredity | Genetic phenotype | Inheritance | SIFT | PolyPhen-2 | dbSNP ID |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | KCNE1 | C > C/T | 35,821,680 | Asp85Asn | Heterozygote | Mother | Long QT syndrome | AD | Deleterious (0.03) | Benign (0.441) | rs1805128 |
CLCNKB | T > T/C | 16,373,054 | Ile85Thr | Heterozygote | Father | Bartter syndrome type 3 | AR | Deleterious (0) | Benign (0.097) | rs202202425 | |
NDUFS4 | A > A/G | 52,979,034 | Arg171Gly | Heterozygote | Father | Mitochondrial complex I deficiency | AR | Deleterious (0) | Probably damaging (1) | rs200758718 | |
2 | CAV3 | G > G/A | 8,775,602 | Val14Ile | Heterozygote | Father | Long QT syndrome | AD | Tolerated-low confidence (0.66) | Benign (0.002) | rs121909281 |
3 | SLC25A3 | C > C/G | 98,991,805 | Leu152Val | Heterozygote | Mother | Mitochondrial phosphate carrier deficiency | AR | tolerated (0.31) | Benign (0.122) | – |
MTHFR | G > G/A | 11,854,077 | Arg473Trp | Heterozygote | Father | Homocystinuria due to MTHFR deficiency | AR | Tolerated (0.38) | Possibly damaging (0.696) | rs750510348 | |
4 | MYBPC3 | G > G/A | 47,371,592 | Arg160Trp | Heterozygote | Father | Cardiomyopathy | AD | Deleterious (0) | Probably damaging (0.998) | rs193068692 |
PDSS2 | A > A/C | 107,475,829 | Phe398Leu | Heterozygote | Mother | Coenzyme Q10 deficiency | AR | Tolerated (0.16) | Possibly damaging (0.632) | rs74325037 | |
GARS | G > G/A | 30,673,468 | Glu738Lys | Heterozygote | Mother | Neuronopathy (mitochondrial disease) | AR | Deleterious-low confidence (0.01) | Benign (0.175) | rs181251337 | |
CPT1A | A > A/C | 68,529,142 | Leu630Arg | Heterozygote | Mother | CPT deficiency type IA | AR | Tolerated (0.35) | Benign (0.024) | – | |
5 | AKAP9 | A > A/G | 91,712,512 | Gln2730Arg | Heterozygote | Father | Long QT syndrome | AD | – | Possibly damaging (0.474) | rs80191629 |
CACNA1C | G > G/A | 2,795,380 | Arg1993Gln | Heterozygote | Mother | Long QT/Short QT syndrome | AD | – | – | rs190288386 | |
ADCK3 | A > A/G | 227,152,710 | Lys63Glu | Heterozygote | Father | Coenzyme Q10 deficiency | AR | Tolerated-low confidence (0.27) | Benign (0.028) | – | |
TTC19 | T > T/G | 15,902,833 | Ile26Leu | Heterozygote | Father | Mitochondrial complex III deficiency | AR | tolerated (0.5) | Benign (0.002) | – | |
7 | CACNA1C | G > G/A | 2,795,380 | Arg1993Gln | Heterozygote | Mother | Long QT/Short QT syndrome | AD | – | – | rs190288386 |
LRPPRC | C > C/T | 44,177,714 | Glu559Lys | Heterozygote | Mother | Mitochondrial complex IV deficiency | AR | Tolerated (1) | Benign (0) | – | |
PUS1 | TG > TG/T | 132,414,323 | Gly20AspfsTer115 | Heterozygote | Mother | Myopathy, Lactic acidosis | AR | – | – | – | |
PCCB | A > A/G | 136,046,480 | Tyr455Cys | Heterozygote | Mother | Propionicacidemia | AR | Deleterious-low confidence (0) | Probably damaging (0.999) | rs121964961 |
