A12320G

# **General Information**

| **Position** | **12320** | **Variant** | **m.12320A\>G** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 37\.30% | **Pathogenicity** | Reported \[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.12320A\>G** variant in MT\-TL2 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 90%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 90%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and fibroblasts (0%) but exceeded 20% in muscle (90%). The main clinical manifestations among affected carriers included isolated skeletal myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12320 | m.12320A\>G | [A12320G\-F1](https://mitofam.com/doc/807/) | UK | Isolated skeletal myopathy | 3 | 0 | 1997 | [9012410](https://pubmed.ncbi.nlm.nih.gov/9012410/) |  |

# **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 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-II2 | Uninf | F | Y | Y | A | 34 | 0 | 90% | / | 0% (F) | Isolated skeletal myopathy |  |
| 2 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-III1 | Fam | F | N | N | A | 20 | / | / | / | / | Healthy |  |
| 3 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-III2 | Fam | F | N | N | A | 22 | / | / | / | / | Healthy |  |
| 4 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-III3 | Fam | F | N | N | A | 24 | / | / | / | / | Healthy |  |

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