T5789C

# **General Information**

| **Position** | **5789** | **Variant** | **m.5789T\>C** | **Locus** | **MT\-TC** | **RNA** | **tRNA Cys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 77\.30% | **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.5789T\>C** variant in MT\-TC has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 11% to 44%, with a median of 20% overall; affected carriers showed mutation loads from 11% to 44%, with a median of 20%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (44%) and urine (28%) than in blood (11%). The main clinical manifestations among affected carriers included NARP.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5789 | m.5789T\>C | [T5789C\-F1](https://mitofam.com/doc/551/) | Germany | NARP | 3 | 0 | 2022 | [35252560](https://pubmed.ncbi.nlm.nih.gov/35252560/) |  |

# **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 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II1 | fam | M | Y | Y | A | 59 | 11% | 44% | 28% | 12%(F) | NARP |  |
| 2 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II2 | fam | M | N | N | A | ND | \+ | / | \+ | / | Healthy |  |
| 3 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II3 | fam | M | N | N | A | ND | \+ | / | \+ | / | Healthy |  |
| 4 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II4 | fam | F | N | N | A | ND | \+ | / | \+ | / | Healthy |  |

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