A3280G

# **General Information**

| **Position** | **3280** | **Variant** | **m.3280A\>G** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[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.3280A\>G** variant in MT\-TL1 has been reported in 2 pedigrees. To date, 4 carriers have been reported. Reported mutation loads ranged from 15% to 75%, with a median of 23% overall; affected carriers showed mutation loads from 23% to 75%, with a median of 49%; unaffected carriers showed mutation loads from 15%, with a median of 15%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (75%) than in blood (23%). The main clinical manifestations among affected carriers included muscle weakness, mild muscle weakness, acute cardiac insufficiency, exercise intolerance, non\-obstructive concentric left ventricular hypertrophy, proximal muscle hypotrophy of limbs, and severe exercise intolerance.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3280 | m.3280A\>G | [A3280G\-F1](https://mitofam.com/doc/2246/) | France | Mild muscle weakness, severe exercise intolerance, acute cardiac insufficiency | ND | ND | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) |  |
| 2 | 3280 | m.3280A\>G | [A3280G\-F2](https://mitofam.com/doc/2247/) | Spain | Muscle weakness, exercise intolerance, proximal muscle hypotrophy of limbs, non\-obstructive concentric left ventricular hypertrophy | 1 | 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 | 3280 | m.3280A\>G | A3280G\-F1 | A3280G\-F1\-I2 | Uninf | F | Y | Y | A | 30 | / | / | / | / | Mild muscle weakness, severe exercise intolerance, acute cardiac insufficiency |  |
| 2 | 3280 | m.3280A\>G | A3280G\-F1 | A3280G\-F1\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | Muscle weakness |  |
| 3 | 3280 | m.3280A\>G | A3280G\-F2 | A3280G\-F2\-I2 | Uninf | F | N | N | A | ND | 15% | / | / | / | Healthy |  |
| 4 | 3280 | m.3280A\>G | A3280G\-F2 | A3280G\-F2\-II1 | Fam | M | Y | Y | A | 41 | 23% | 75% | / | / | Muscle weakness, exercise intolerance, proximal muscle hypotrophy of limbs, non\-obstructive concentric left ventricular hypertrophy |  |

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