Table 2 Deep intronic variants identified by full-length sequencing of PAH
From: Identification of phenylketonuria patient genotypes using single-gene full-length sequencing
Nucleotide aberration | Location | Frequency of detection in PKU patients | Proportion of mPKU | Proportion of cPKU | Variant classification |
|---|---|---|---|---|---|
c.706 + 629A > C | intron6 | 3.0% (1/33) | – | 100% (1/1) | Uncertain significance (PM3, PP4_Moderate, PM2_Supporting) |
c.707-59C > G | intron6 | 6.1% (2/33) | 100% (2/2) | – | Likely pathogenic (PM3_Strong, PP4_Moderate, BS1) |
c.1065 + 241C > A | intron10 | 33.3% (11/33) | 81.8% (9/11) | 18.2% (2/11) | Pathogenic (PM3_VeryStrong, PP4_Moderate, PM2_Supporting) |
c.1199 + 502A > T | intron11 | 57.6% (19/33) | 31.6% (6/19) | 68.4% (13/19) | Pathogenic (PM3_VeryStrong, PP4_Moderate, PM2_Supporting) |