G7497A

# General Information

| **Position** | **7497** | **Variant** | **m.7497G\>A** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.7497G\>A** variant in MT\-TS1 has been reported in 3 pedigrees. To date, 11 carriers have been reported. Reported mutation loads ranged from 10% to 100%, with a median of 90% overall; affected carriers showed mutation loads from 90% to 100%, with a median of 100%; unaffected carriers showed mutation loads from 10% to 70%, with a median of 61%. The main clinical manifestations among affected carriers included myopathy, exercise intolerance, myalgia, lactic acidaemia, and muscle pain.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7497 | m.7497G\>A | [G7497A\-F1](https://mitofam.com/doc/753/) | Germany | Myopathy | 2 | 0 | 1998 | [9778262](https://pubmed.ncbi.nlm.nih.gov/9778262/) |  |
| 2 | 7497 | m.7497G\>A | [G7497A\-F2](https://mitofam.com/doc/754/) | Germany | Myopathy | 3 | 2 | 1998 | [9778262](https://pubmed.ncbi.nlm.nih.gov/9778262/) |  |
| 3 | 7497 | m.7497G\>A | [G7497A\-F3](https://mitofam.com/doc/755/) | Netherlands | Exercise intolerance, muscle pain, lactic acidaemia | 1 | 0 | 2003 | [14605505](https://pubmed.ncbi.nlm.nih.gov/14605505/) |  |

# 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 | 7497 | m.7497G\>A | G7497A\-F1 | G7497A\-F1\-I2 | Uninf | F | N | N | A | ND | 62% | / | / | / | Healthy |  |
| 2 | 7497 | m.7497G\>A | G7497A\-F1 | G7497A\-F1\-II1 | Fam | F | Y | Y | A | 3 | 100% | 100% | / | 100% (F) | Myopathy |  |
| 3 | 7497 | m.7497G\>A | G7497A\-F1 | G7497A\-F1\-II2 | Fam | M | N | N | A | ND | 60% | / | / | / | Healthy |  |
| 4 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-I2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-II2 | Fam | M | N | Y | A | 26 | / | / | / | / | Myopathy |  |
| 6 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-II3 | Fam | M | N | N | A | ND | 70% | / | / | / | Healthy |  |
| 7 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-II4 | Fam | F | Y | Y | A | 30 | / | 100% | / | / | Myopathy |  |
| 8 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-III7 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 9 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-III8 | Fam | F | N | Y | A | 20 | 90% | / | / | / | Myalgia |  |
| 10 | 7497 | m.7497G\>A | G7497A\-F3 | G7497A\-F3\-I2 | Uninf | F | N | N | A | ND | 10% | / | / | / | Healthy |  |
| 11 | 7497 | m.7497G\>A | G7497A\-F3 | G7497A\-F3\-II | Fam | F | Y | Y | A | 13 | 90% | 100% | / | / | Exercise intolerance, muscle pain, lactic acidaemia |  |

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