T593C

# **General Information**

| **Position** | **593** | **Variant** | **m.593T\>C** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 0\.80% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.593T\>C** variant in MT\-TF has been reported in 1 pedigree. To date, 10 carriers have been reported. Homoplasmy was reported in 10/10 carriers (100%), and 5/10 carriers (50%) were affected. The main clinical manifestations among affected carriers included moderate, severe hearing impairment, mild hearing impairment, moderate hearing impairment, and nonsyndromic deafness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 593 | m.593T\>C | T593C\-F1 | China | Nonsyndromic deafness | 5 | 4 | [28579530](https://pubmed.ncbi.nlm.nih.gov/28579530/) | 2017 |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-I2 | Uninf | F | N | N | D | / | Homo | ND | ND | skin fibroblast homo | / |  |
| 2 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-II2 | Fam | F | N | Y | A | 74 | Homo | ND | ND | skin fibroblast homo | Moderate/ Severe hearing impairment |  |
| 3 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III1 | Fam | M | N | N | A | 54 | Homo | ND | ND | skin fibroblast homo | / |  |
| 4 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III3 | Fam | M | N | Y | A | 52 | Homo | ND | ND | skin fibroblast homo | Moderate hearing impairment |  |
| 5 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III5 | Fam | M | N | N | A | 50 | Homo | ND | ND | skin fibroblast homo | / |  |
| 6 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III8 | Fam | F | N | Y | A | 47 | Homo | ND | ND | skin fibroblast homo | Moderate/ Severe hearing impairment |  |
| 7 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III9 | Fam | M | N | Y | A | 45 | Homo | ND | ND | skin fibroblast homo | Mild hearing impairment |  |
| 8 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-III11 | Fam | F | Y | Y | A | 45 | Homo | ND | ND | skin fibroblast homo | Nonsyndromic deafness |  |
| 9 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-IV10 | Fam | M | N | N | A | 19 | Homo | ND | ND | skin fibroblast homo | / |  |
| 10 | 593 | m.593T\>C | T593C\-F1 | T593C\-F1\-IV11 | Fam | F | N | N | A | / | Homo | ND | ND | skin fibroblast homo | / |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).