T9789C

# **General Information**

| **Position** | **9789** | **Variant** | **m.9789T\>C** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **S195P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.9789T\>C** variant in MT\-CO3 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 50%, with a median of 11\.7% overall; affected carriers showed mutation loads from 0% to 50%, with a median of 11\.7%. In one affected carrier, the mutation was undetectable in blood (0%) and myoblasts (0%) but exceeded 20% in muscle (50%) and sdh\-hyperreactive fibers (43\.5%). The main clinical manifestations among affected carriers included exercise intolerance, elevated lactate, isolated COX deficiency, painful muscle cramps, and rhabdomyolysis with pigmenturia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9789 | m.9789T\>C | T9789C\-F1 | Germany | Exercise intolerance; rhabdomyolysis; isolated COX deficiency | ND | ND | 2005 | [16288875](https://pubmed.ncbi.nlm.nih.gov/16288875/) |  |

# **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 | 9789 | m.9789T\>C | T9789C\-F1 | T9789C\-F1\-P1 | De novo | M | Y | Y | A | 23 | 0% | 50% | / | 0%(myoblasts); 43\.5%(SDH\-hyperreactive fibers); 11\.7%(SDH\-normal fibers) | Exercise intolerance, painful muscle cramps, rhabdomyolysis with pigmenturia, elevated lactate, isolated COX deficiency |  |

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