A12308G

# **General Information**

| **Position** | **12308** | **Variant** | **m.12308A\>G** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 42\.00% | **Pathogenicity** | Reported \[B] in hg K,U |

"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.12308A\>G** variant in MT\-TL2 has been reported in 8 pedigrees. To date, 8 carriers have been reported. Homoplasmy was reported in 6/8 carriers (75%), and 8/8 carriers (100%) were affected. The main clinical manifestations among affected carriers included cardiomyopathy, encephalopathy, progressive external ophthalmoplegia, CPEO, chronic Intestinal Pseudoobstruction, limb myopathy, deafness, heart conduction trouble, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12308 | m.12308A\>G | A12308G\-F1 | Germany | CPEO | ND | ND | 1991 | [1709275](https://pubmed.ncbi.nlm.nih.gov/1709275/) |  |
| 2 | 12308 | m.12308A\>G | A12308G\-F2 | Germany | Chronic Intestinal Pseudoobstruction, myopathy, ophthalmoplegia | ND | ND | 1991 | [1709275](https://pubmed.ncbi.nlm.nih.gov/1709275/) | Carrying C12246A and A10006G |
| 3 | 12308 | m.12308A\>G | A12308G\-F3 | France | Encephalopathy | ND | ND | 1998 | [9384601](https://pubmed.ncbi.nlm.nih.gov/9384601/) |  |
| 4 | 12308 | m.12308A\>G | A12308G\-F4 | France | Progressive external ophthalmoplegia | ND | ND | 1998 | [9384601](https://pubmed.ncbi.nlm.nih.gov/9384601/) |  |
| 5 | 12308 | m.12308A\>G | A12308G\-F5 | France | Limb myopathy, encephalopathy, heart conduction trouble | ND | ND | 1998 | [9384601](https://pubmed.ncbi.nlm.nih.gov/9384601/) | Carrying A15924G |
| 6 | 12308 | m.12308A\>G | A12308G\-F6 | France | Progressive external ophthalmoplegia, deafness, cardiomyopathy | ND | ND | 1998 | [9384601](https://pubmed.ncbi.nlm.nih.gov/9384601/) |  |
| 7 | 12308 | m.12308A\>G | A12308G\-F7 | Greece | Cardiomyopathy | ND | ND | 2008 | [18502698](https://pubmed.ncbi.nlm.nih.gov/18502698/) | Carrying G3337A, C15946T |
| 8 | 12308 | m.12308A\>G | A12308G\-F8 | Greece | Cardiomyopathy | ND | ND | 2008 | [18502698](https://pubmed.ncbi.nlm.nih.gov/18502698/) | Carrying G3337A, C15946T |

# **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 | 12308 | m.12308A\>G | A12308G\-F1 | A12308G\-F1\-P1 | Uninf | M | Y | Y | ND | 32 | / | \+ | / | / | CPEO |  |
| 2 | 12308 | m.12308A\>G | A12308G\-F2 | A12308G\-F2\-P1 | Uninf | M | Y | Y | ND | 49 | / | \+ | / | / | Chronic Intestinal Pseudoobstruction, myopathy, ophthalmoplegia | Carrying C12246A and A10006G |
| 3 | 12308 | m.12308A\>G | A12308G\-F3 | A12308G\-F3\-P1 | Uninf | ND | Y | Y | ND | ND | / | Homo | / | / | Encephalopathy |  |
| 4 | 12308 | m.12308A\>G | A12308G\-F4 | A12308G\-F4\-P1 | Uninf | ND | Y | Y | ND | ND | / | Homo | / | / | Progressive external ophthalmoplegia |  |
| 5 | 12308 | m.12308A\>G | A12308G\-F5 | A12308G\-F5\-P1 | Uninf | ND | Y | Y | ND | ND | / | Homo | / | / | Limb myopathy, encephalopathy, heart conduction trouble | Carrying A15924G |
| 6 | 12308 | m.12308A\>G | A12308G\-F6 | A12308G\-F6\-P1 | Uninf | ND | Y | Y | ND | ND | / | Homo | / | / | Progressive external ophthalmoplegia, deafness, cardiomyopathy |  |
| 7 | 12308 | m.12308A\>G | A12308G\-F7 | A12308G\-F7\-III1 | Uninf | F | Y | Y | A | newborn | Homo | / | / | / | Cardiomyopathy | Carrying G3337A, C15946T |
| 8 | 12308 | m.12308A\>G | A12308G\-F8 | A12308G\-F8\-P1 | Uninf | F | Y | Y | A | 65 | Homo | / | / | / | Cardiomyopathy | Carrying G3337A, C15946T |

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