G12334A

# **General Information**

| **Position** | **12334** | **Variant** | **m.12334G\>A** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 63\.40% | **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.12334G\>A** variant in MT\-TL2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 6% to 84%, with a median of 16% overall; affected carriers showed mutation loads from 6% to 84%, with a median of 16%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (84%) and urine (24%) than in blood (6%). The main clinical manifestations among affected carriers included chronic progressive external ophthalmoplegia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12334 | m.12334G\>A | G12334A\-F1 | UK | Chronic progressive external ophthalmoplegia | 0 | 0 | 2020 | [32310184](https://pubmed.ncbi.nlm.nih.gov/32310184/) |  |

# **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 | 12334 | m.12334G\>A | G12334A\-F1 | G12334A\-F1\-III10 | De novo | M | Y | Y | A | 47 | 6% | 84% | 24% | 8% (BM) | Chronic progressive external ophthalmoplegia |  |

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