Table 3.
Classification of variants detected in first step.
| No | Variant | Classification | Criteria applied | Reference PubMed ID |
|---|---|---|---|---|
| 1 | GJB2(NM_004004.5):c.109G>A(p.Val37Ile) | Pathogenic | PS4, PM1, PM3, PP1_Strong, BS2 | 31160754 |
| 2 | GJB2(NM_004004.5):c.176_191del(p.Gly59AlafsTer18) | Pathogenic | PVS1, PS3_Moderate, PM2, PM3_VeryStrong | 20095872; 26043044 |
| 3 | GJB2(NM_004004.5):c.235delC(p.Leu79CysfsTer3) | Pathogenic | PVS1, PS3_Moderate, PM3_VeryStrong | 12352684; 26043044; 1245676 |
| 4 | GJB2(NM_004004.5):c.299_300delAT(p.His100ArgfsTer14) | Pathogenic | PVS1, PS3_Moderate, PM2_Supporting, PM3_VeryStrong | 20095872; 26043044 |
| 5 | GJB2(NM_004004.5):c.427C>T(p.Arg143Trp) | Pathogenic | PM2_Supporting, PM3_VeryStrong, PM5, PP3 | 27792752; 28271504; 26095810; 24256046; 14985372 |
| 6 | GJB2(NM_004004.5):c.428G>A(p.Arg143Gln) | Pathogenic | PM2, PM3_VeryStrong, PM5, PP3 | 23856378; 19715472; 22991996; 11313763 |
| 7 | GJB2(NM_004004.5):c.583A>G(p.Met195Val) | Likely pathogenic | PM2_Supporting, PM3_Strong, PP3 | 20497192; 24507663; 24013081 |
| 8 | SLC26A4(NM_000441.1):c.1174A>T(p.Asn392Tyr) | Pathogenic | PM2, PM3_VeryStrong, PP3, PP4 | 23151025; 28786104; 24599119 |
| 9 | SLC26A4(NM_000441.1):c.1226G>A(p.Arg409His) | Pathogenic | PM1, PM2_Supporting, PM3_VeryStrong, PP3, PP4 | 27247933; 28786104; 25372295 |
| 10 | SLC26A4(NM_000441.1):c.1229C>T(p.Thr410Met) | Pathogenic | PS4, PM1, PM2_Supporting, PM3_VeryStrong, PM5, PP3, PP4 | 23151025; 28786104; 23638949 |
| 11 | SLC26A4(NM_000441.1):c.1336C>T(p.Gln446Ter) | Pathogenic | PVS1, PM2, PM3 | 25372295 |
| 12 | SLC26A4(NM_000441.1):c.1343C>A(p.Ser448Ter) | Pathogenic | PVS1, PM2, PM3, PP4 | 25372295 |
| 13 | SLC26A4(NM_000441.1):c.1343C>T(p.Ser448Leu) | Pathogenic | PM2, PM3_VeryStrong, PP3, PP4 | 21961810; 25372295; 24599119; 24612839 |
| 14 | SLC26A4(NM_000441.1):c.1614 + 1G>A | Pathogenic | PVS1, PM2, PM3_Strong, PP4 | 11919333; 25372295; 20128824 |
| 15 | SLC26A4(NM_000441.1):c.1692dupA(p.Cys565MetfsTer9) | Pathogenic | PVS1, PM2, PM3, PP4 | 25372295 |
| 16 | SLC26A4(NM_000441.1):c.1707 + 5G>A | Pathogenic | PS3_VeryStrong, PS4, PM2, PM3_VeryStrong, PP3, PP4 | 24599119; 31599023 |
| 17 | SLC26A4(NM_000441.1):c.1991C>T(p.Ala664Val) | Pathogenic | PM2, PM3_VeryStrong, PP3, PP4 | 25372295 |
| 18 | SLC26A4(NM_000441.1):c.2000T>C(p.Phe667Ser) | Pathogenic | PM2, PM3_Strong, PM5, PP3, PP4 | 22412181; 25372295 |
| 19 | SLC26A4(NM_000441.1):c.2168A>G(p.His723Arg) | Pathogenic | PS3_Supporting, PM3_VeryStrong, PP3, PP4, BS1_Supporting | 18310264; 25372295 |
| 20 | SLC26A4(NM_000441.1):c.589G>A(p.Gly197Arg) | Pathogenic | PM2, PM3_VeryStrong, PP1, PP3, PP4 | 25372295; 23385134 |
| 21 | SLC26A4(NM_000441.1):c.668T>C(p.Phe223Ser) | Pathogenic | PM2, PM3_VeryStrong, PP3, PP4 | 25372295; 30554688 |
| 22 | SLC26A4(NM_000441.1):c.919-2A>G | Pathogenic | PVS1, PS4, PM3_VeryStrong, PP4, BS1 | 25149764; 23638949 |
| 23 | MT-RNR1(NC_012920.1):m.1555A>G | Pathogenic | – | 31160754 |