A12299C

# **General Information**

| **Position** | **12299** | **Variant** | **m.12299A\>C** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 53\.00% | **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.12299A\>C** variant in MT\-TL2 has been reported in 1 pedigree. To date, 5 carriers have been reported. Reported mutation loads ranged from 30% to 80%, with a median of 65% overall; affected carriers showed mutation loads from 65% to 80%, with a median of 72\.5%; unaffected carriers showed mutation loads from 30%, with a median of 30%. The main clinical manifestations among affected carriers included MELAS.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12299 | m.12299A\>C | [A12299C\-F1 ](https://mitofam.com/doc/804/)| Saudi Arabia | MELAS | 4 | 0 | 2006 | [17092464](https://pubmed.ncbi.nlm.nih.gov/17092464/) |  |

# **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 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅰ1 | Uninf | F | N | N | A | ND | 30% | / | / | / | Healthy |  |
| 2 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ1 | Fam | M | Y | Y | D | 11 | 65% | 80% | / | / | MELAS |  |
| 3 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ2 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ3 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 12299 | m.12299A\>C | A12299C\-F1 | A12299C\-F1\-Ⅱ4 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy |  |

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