G3249A

# **General Information**

| **Position** | **3249** | **Variant** | **m.3249G\>A** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu(UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 39\.30% | **Pathogenicity** | Reported \[VUS] |

"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.3249G\>A** variant in MT\-TL1 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 5% to 85%, with a median of 45% overall; affected carriers showed mutation loads from 45% to 85%, with a median of 65%; unaffected carriers showed mutation loads from 5%, with a median of 5%. The main clinical manifestations among affected carriers included progressive visual failure, difficulties swallowing, exercise intolerance, muscle weakness, neurosensorial hearing loss, and paresthesia in the lower limbs.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3249 | m.3249G\>A | [G3249A\-F1](https://mitofam.com/doc/2284/) | Belgium | Progressive visual failure, neurosensorial hearing loss, exercise intolerance, muscle weakness, paresthesia in the lower limbs, difficulties swallowing | 1 | 0 | 2001 | [11448301](https://pubmed.ncbi.nlm.nih.gov/11448301/) |  |

# **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 | 3249 | m.3249G\>A | G3249A\-F1 | G3249A\-F1\-I2 | Uninf | F | N | N | A | ND | \<5% | / | / | / | Healthy |  |
| 2 | 3249 | m.3249G\>A | G3249A\-F1 | G3249A\-F1\-II1 | Fam | M | Y | Y | A | 22 | 45% | 85% | / | / | Progressive visual failure, neurosensorial hearing loss, exercise intolerance, muscle weakness, paresthesia in the lower limbs, difficulties swallowing |  |

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