Table 2 Pathogenic variants in the SLC26A4 gene found in the two patients
From: Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay
Nucleotide | Allelic frequency gnomAD(v2.1.1) | ACMG interpretation | ACMG evidence |
|---|---|---|---|
c.1149 + 1G > A | not found | Likely Pathogenic | PM2_supporting + PP4 + PM3 + PS3 |
c.2089 + 3 A > T | not found | Likely Pathogenic | PM2_supporting + PP4 + PM3 + PS3 |