G12293A

# **General Information**

| **Position** | **12293** | **Variant** | **m.12293G\>A** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 66\.90% | **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.12293G\>A** variant in MT\-TL2 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 40\.9%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 40\.9%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (40\.9%). The main clinical manifestations among affected carriers included rapidly progressive adult\-onset scoliosis and stable scoliosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12293 | m.12293G\>A | [G12293A\-F1](https://mitofam.com/doc/811/) | USA | Rapidly progressive adult\-onset scoliosis | ND | ND | 2014 | [25223649](https://pubmed.ncbi.nlm.nih.gov/25223649/) | Carrying multiple mtDNA deletions |

# **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 | 12293 | m.12293G\>A | G12293A\-F1 | G12293A\-F1\-II2 | Uninf | F | Y | Y | A | 69 | 0 | 40\.9% | / | / | Rapidly progressive adult\-onset scoliosis | Carrying multiple mtDNA deletions |
| 2 | 12293 | m.12293G\>A | G12293A\-F1 | G12293A\-F1\-III1 | Fam | M | N | Y | A | 37 | 0 | / | / | / | Stable scoliosis |  |

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