T3273C

# **General Information**

| **Position** | **3273** | **Variant** | **m.3273T\>C** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 71\.20% | **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.3273T\>C** variant in MT\-TL1 has been reported in 1 pedigree. To date, 5 carriers have been reported. Reported mutation loads ranged from 1% to 88%, with a median of 1% overall; affected carriers showed mutation loads from 1% to 88%, with a median of 2\.5%; unaffected carriers showed mutation loads from 1%, with a median of 1%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (2%), muscle (88%), and fibroblasts (3%) than in subcutaneous fat (less than 1%). The main clinical manifestations among affected carriers included ocular myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3273 | m.3273T\>C | [T3273C\-F1](https://mitofam.com/doc/2311/) | Spain | Ocular myopathy | 4 | 0 | 2001 | [11404120](https://pubmed.ncbi.nlm.nih.gov/11404120/) |  |

# **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 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-I2 | Uninf | F | N | N | A | 79 | \<1% | / | / | / | Healthy |  |
| 2 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-II1 | Fam | M | N | N | A | ND | \<1% | / | / | / | Healthy |  |
| 3 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-II2 | Fam | F | Y | Y | A | 40 | 2% | 88% | / | 3% (F), \<1% (Subcutaneous fat) | Ocular myopathy |  |
| 4 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-III1 | Fam | M | N | N | A | ND | \<1% | / | / | / | Healthy |  |
| 5 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-III2 | Fam | F | N | N | A | ND | \<1% | / | / | / | Healthy |  |

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