G12294A

# **General Information**

| **Position** | **12294** | **Variant** | **m.12294G\>A** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[VUS\*] |

"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.12294G\>A** variant in MT\-TL2 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 75%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 75%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and myoblast culture (0%) but exceeded 20% in muscle (59\.8%). In one affected carrier, the mutation was undetectable in blood (0%), urine (0%), and bone marrow (0%) but exceeded 20% in muscle (75%). The main clinical manifestations among affected carriers included CPEO, pure exercise intolerance, exercise intolerance, mild limb weakness, and ophthalmoplegia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12294 | m.12294G\>A | G12294A\-F1 | Thailand | CPEO, mild limb weakness, exercise intolerance | ND | ND | 2003 | [14581685](https://pubmed.ncbi.nlm.nih.gov/14581685/) |  |
| 2 | 12294 | m.12294G\>A | G12294A\-F2 | Denmark | Pure exercise intolerance, ophthalmoplegia | 0 | 0 | 2017 | [29052516](https://pubmed.ncbi.nlm.nih.gov/29052516/) |  |

# **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 | 12294 | m.12294G\>A | G12294A\-F1 | G12294A\-F1\-P1 | Uninf | F | Y | Y | A | 44 | 0 | 59\.8% | / | 0% (Myoblast culture) | CPEO, mild limb weakness, exercise intolerance |  |
| 2 | 12294 | m.12294G\>A | G12294A\-F2 | G12294A\-F2\-P1 | De novo | M | Y | Y | A | 39 | 0 | 75% | 0 | 0% (BM) | Pure exercise intolerance, ophthalmoplegia |  |

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