Table 3.
Connexin 30.3 (GJB4) gene variants.
| Clinical Significance | Ghana | Australia | Iran | China | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Protein Change | Nucleotide Change | rs Number | Intervar | Varsome | InterVar | Verdit | [21] | [23] | [46] | [15] |
| p.C169 * | c.507C > A | rs79193415 | Uncertain Significance | Pathogenic | - | Conflicting Interpretations | - | 2/NA | - | 1/506 |
| p.C169C | c.507C > T | rs79193416 | Likely Benign | Uncertain Significance | - | Conflicting Interpretations | - | - | 2/144 | |
| p.E67L | c.199G > A | rs368331423 | Uncertain Significance | Benign | - | Conflicting Interpretations | - | - | - | 1/506 |
| p.G126T | c.376G > A | rs146979528 | Likely Pathogenic | Benign | - | Conflicting Interpretations | - | - | - | 2/506 |
| p.H221Y | c.661C > T | rs1223189096 | Uncertain Significance | Likely Benign | - | Conflicting Interpretations | - | - | - | 1/506 |
| p.R101H | c.302G > A | rs375702737 | Likely Pathogenic | Likely Benign | - | Conflicting Interpretations | - | 1/520 | - | - |
| p.R103C | c.307C > T | rs9426009 | Benign | Benign | - | Benign | - | - | 1/144 | - |
| p.R124W | c.370C > T | rs373126632 | Likely Pathogenic | Benign | - | Conflicting Interpretations | - | 1/520 | - | 1/506 |
| p.R227W | c.679C > T | rs185327282 | Uncertain Significance | Likely Benign | - | Conflicting Interpretations | - | - | 1/144 | - |
| p.R22C | c.64C > T | rs776245625 | Likely Pathogenic | Likely Benign | - | Conflicting Interpretations | - | 1/520 | - | 1/506 |
| p.R98C | c.292C > T | rs200602523 | Likely Pathogenic | Benign | - | Conflicting Interpretations | - | 2/520 | - | 1/506 |
| p.T233L | c.698C > A | - | Uncertain Significance | Likely Benign | Conflicting Interpretations | - | - | - | 1/506 | |
| p.V37M | c.109G > A | rs146378222 | Benign | Benign | Uncertain Significance | Benign | - | 2/520 | - | 2/506 |
| p.V74M | c.220G > A | rs771048190 | Likely Pathogenic | Likely Benign | - | Conflicting Interpretations | - | 1/520 | - | - |
| p.N119T | c.356A > C | rs190460237 | Likely Pathogenic | Uncertain Significance | - | Conflicting Interpretations | 2/400 | - | - | - |
| p.E204A | 611A > C | rs3738346 | Benign | Benign | Benign | Benign | 70/400 | - | - | - |
| p.R151S | c.451C > A | rs78499418 | Benign | Benign | - | Benign | 58/400 | - | - | - |
| p.T172T | c.516T > C | rs111693060 | Benign | Benign | Benign | Benign | 13/400 | - | - | - |
| p.K123K | c.369G > A | rs142843509 | Likely Benign | Benign | Likely Benign | Benign | 2/400 | - | - | - |
| p.R101R | c.303C > G | rs138184343 | Likely Benign | Benign | Benign | Benign | 15/400 | - | - | - |
| p.Q80* | c.238C > T | rs114429815 | Benign | Benign | Benign | Benign | 3/400 | - | - | - |
* The numerators in this column represent the number of mutated alleles, and the denominators the total number of screened alleles. NA, not applicable (the authors were not clear on the total number of alleles they have screened), InterVar, VarSome, and ClinVar are databases to assess the clinical significance of the variants.