Table 1.
Variants detected in newborn screening for Fabry disease.
| Variant No. | Nucleotide change | Amino acid change |
Location | Databases |
PolyPhen-2 (Score) | Amenability** | Classification | |
|---|---|---|---|---|---|---|---|---|
| ClinVar | Fabry-database.org* | |||||||
| 1 | c.2 T > A | p.M1K | Exon 1 | NR | Dobrovolny (2008) | Benign (0.080) | − | Pathogenic (classic) |
| 2 | c.124A > G | p.M42 V | Exon 1 | Pathogenic | Park (2009) | Probably damaging | + | |
| 3 | c.128G > A | p.G43D | Exon 1 | NR | Sakuraba (1990) | Probably damaging | − | |
| 7 | c.431G > A | p.G144D | Exon 3 | NR | Li (2014) | Probably damaging | + | |
| 11 | c.595G > A | p.V199 M | Exon 4 | Uncertain significance | Shabbeer (2002) | Probably damaging | + | |
| 23 | c.1072_1074delGAG | p.E358del | Exon 7 | NR | NR | − | − | |
| 25 | c.1208 T > C | p.L403S | Exon 7 | NR | Shimotori (2008) | Probably damaging | + | |
| 4 | c.290C > T | p.A97V | Exon 2 | pathogenic | Eng (1997) | Possibly damaging (0.882) | + | Pathogenic (non-classic) |
| 5 | c.335G > A | p.R112H | Exon 2 | pathogenic | Shimotori (2008) | Probably damaging | + | |
| 8 | c.436C > T | p.P146S | Exon 3 | pathogenic | Mild, late-onset | Probably damaging | + | |
| 14 | c.628C > T | p.P210S | Exon 4 | NR | Eng (1994) | Possibly damaging (0.758) | + | |
| 15 | c.639 + 919G > A | − | Intron 4 | pathogenic | NR | − | ? | |
| 16 | c.644A > G | p.N215S | Exon 5 | pathogenic | Ebrahim (2012) | Benign (0.048) | + | |
| 18 | c.687 T > G | p.F229 L | Exon 5 | NR | Kawano (2007) | Possibly damaging (0.950) | + | |
| 21 | c.888G > A | p.M296I | Exon 6 | pathogenic | Saito (2013) | Benign (0.309) | + | |
| 6 | c.428C > T | p.A143V | Exon 3 | NR | NR | Probably damaging | NA | VOUS |
| 9 | c.493G > A | p.D165N | Exon 3 | NR | NR | Probably damaging | NA | |
| 12 | c.605G > T | p.C202F | Exon 4 | NR | NR | Probably damaging | NA | |
| 17 | c.685 T > G | p.F229 V | Exon 5 | NR | NR | Probably damaging | NA | |
| 19 | c.714 T > A | p.S238R | Exon 5 | NR | NR | Probably damaging | − | |
| 26 | c.1231G > A | p.G411S | Exon 7 | NR | NR | Probably damaging | NA | |
| 10 | c.538 T > G | p.L180 V | Exon 3 | NR | NR | Possibly damaging (0.470) | NA | |
| 24 | c.1171A > G | p.K391E | Exon 7 | NR | NR | Benign (0.266) | + | |
| 22 | c.1067G > A | p.R356Q | Exon 7 | Conflicting interpretations of pathogenicity | Hwu (2009) | Benign (0.190) | + | |
| 20 | c.725 T > C | p.I242T | Exon 5 | NR | NR | Benign (0.079) | + | |
| 13 | c.625 T > C | p.W209R | Exon 4 | NR | NR | Benign (0.000) | NA | |