T3258C

# **General Information**

| **Position** | **3258** | **Variant** | **m.3258T\>C** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.3258T\>C** variant in MT\-TL1 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 19% to 96%, with a median of 48% overall; affected carriers showed mutation loads from 57% to 96%, with a median of 76\.5%; unaffected carriers showed mutation loads from 19% to 48%, with a median of 30%. The main clinical manifestations among affected carriers included fatigue, dyspnea, generalized tonic\-clonic seizures, headache, left temporal hemianopsia, and right temporal hemianopsia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3258 | m.3258T\>C | [T3258C\-F1](https://mitofam.com/doc/2299/) | Spain | Fatigue, dyspnea, headache, right temporal hemianopsia, generalized tonic\-clonic seizures, left temporal hemianopsia | 3 | 0 | 2003 | [12798797](https://pubmed.ncbi.nlm.nih.gov/12798797/) |  |

# **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 | 3258 | m.3258T\>C | T3258C\-F1 | T3258C\-F1\-I2 | Uninf | F | N | N | A | 50 | 19% | / | / | / | Healthy |  |
| 2 | 3258 | m.3258T\>C | T3258C\-F1 | T3258C\-F1\-II1 | Fam | F | Y | Y | A | 21 | 57% | 96% | / | / | Fatigue, dyspnea, headache, right temporal hemianopsia, generalized tonic\-clonic seizures, left temporal hemianopsia |  |
| 3 | 3258 | m.3258T\>C | T3258C\-F1 | T3258C\-F1\-II2 | Fam | M | N | N | A | 18 | 30% | / | / | / | Healthy |  |
| 4 | 3258 | m.3258T\>C | T3258C\-F1 | T3258C\-F1\-II3 | Fam | M | N | N | A | 16 | 48% | / | / | / | Healthy |  |

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