G12300A

# **General Information**

| **Position** | **12300** | **Variant** | **m.12300G\>A** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 51\.70% | **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.12300G\>A** variant in MT\-TL2 has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 15% to 89%, with a median of 84% overall; affected carriers showed mutation loads from 84% to 89%, with a median of 86\.5%; unaffected carriers showed mutation loads from 15%, with a median of 15%. The main clinical manifestations among affected carriers included mERRF\-NARP syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12300 | m.12300G\>A | [G12300A\-F1 ](https://mitofam.com/doc/814/)| Spain | MERRF\-NARP syndrome | 2 | 0 | 2012 | [22094595](https://pubmed.ncbi.nlm.nih.gov/22094595/) |  |

# **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 | 12300 | m.12300G\>A | G12300A\-F1 | G12300A\-F1\-I2 | Uninf | F | N | N | A | ND | 15% | / | / | / | Partial sensorineural hearing loss |  |
| 2 | 12300 | m.12300G\>A | G12300A\-F1 | G12300A\-F1\-II1 | Fam | F | Y | Y | A | 4 | / | 84% | / | 89% (F) | MERRF\-NARP syndrome |  |
| 3 | 12300 | m.12300G\>A | G12300A\-F1 | G12300A\-F1\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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