Table 2.
Rare VANGL1 missense variants of unknown significance (UVs) and silent variants not reported recently
| Position | Variant | Effect | NTD patients |
Controls |
||
|---|---|---|---|---|---|---|
| this study (n = 144) | Kibar et al. [2009] (n = 673) | this study (n = 357) | Kibar et al. [2009] | |||
| Rare UVs, some could possibly represent mild mutations | ||||||
| Exon 2 | c.73G>A | p.Glu25Lys | 0 | 1 | 0 | 0 (n = 1,346) |
| Exon 3 | c.523C>T | p.Arg175Trp | 0 | 3 | 1 | 1 (n = 355) |
| Exon 3 | c.524G>A | p.Arg175Gln | 0 | 1 | 0 | 0 (n = 1,255) |
| Exon 3 | c.752C>T | p.Thr251Met | 0 | 2 | 0 | 0 (n = 1,348) |
| Exon 4 | c.868T>C | p.Tyr290His | 0 | 1 | 0 | 0 (n = 1,355) |
| Exon 7 | c.1401T>G | p.Asp468Glu | 0 | 1 | 0 | 0 (n = 1,255) |
| Novel silent variants, likely benign | ||||||
| Exon 4 | c.933C>A | synonymous | 1 | not studied | ||
| IVS6 | c.1314+12C>T | intronic | 2 | not studied | ||
UVs changed poorly conserved amino acid residues but could possibly represent mild mutations. Silent variations were synonymous or intronic and likely benign.