A7530G

# **General Information**

| **Position** | **7530** | **Variant** | **m.7530A\>G** | **Locus** | **MT\-TD** | **RNA** | **tRNA Asp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 86\.40% | **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.7530A\>G** variant in MT\-TD has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 95%, with a median of 32% overall; affected carriers showed mutation loads from 0% to 95%, with a median of 32%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (95%) and bone marrow (32%). The main clinical manifestations among affected carriers included deafness, cataract, cerebellar syndrome, cognitive disorders, dystonia, myoclonus, ptosis, retinitis pigmentosa, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7530 | m.7530A\>G | A7530G\-F1 | France | Deafness, myoclonus, cognitive disorders, dystonia, spasticity, ptosis, cerebellar syndrome, cataract, retinitis pigmentosa | ND | ND | 2025 | [https://www.medrxiv.org/content/10\.1101/2025\.11\.19\.25339649v1](https://www.medrxiv.org/content/10.1101/2025.11.19.25339649v1) |  |

# **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 | 7530 | m.7530A\>G | A7530G\-F1 | A7530G\-F1\-P1 | Uninf | F | Y | Y | A | 35 | 0 | 95% | / | 32%(BM) | Deafness, myoclonus, cognitive disorders, dystonia, spasticity, ptosis, cerebellar syndrome, cataract, retinitis pigmentosa |  |

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