T12782G

# **General Information**

| **Position** | **12782** | **Variant** | **m.12782T\>G** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **I149S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.12782T\>G** variant in MT\-ND5 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 65%, with a median of 65% overall; affected carriers showed mutation loads from 65%, with a median of 65%. The main clinical manifestations among affected carriers included 100 OS, 400 OD and 20, lHON\-like bilateral optic neuropathy, central scotomas, and visual acuity 20\.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12782 | m.12782T\>G | T12782G\-F1 | Saudi Arabia | LHON\-like optic neuropathy | 0 | 0 | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | Patient 23; Tables 1\-3\.; Saudi Arabia / Middle Eastern Arab; patients enrolled from Riyadh neuro\-ophthalmology clinics and all patients/control subjects were Middle Eastern Arabs. |

# **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 | 12782 | m.12782T\>G | T12782G\-F1 | T12782G\-F1\-P1 | Uninf | F | Y | Y | A | onset 11 y | 65% | / | / | / | LHON\-like bilateral optic neuropathy; visual acuity 20/400 OD and 20/100 OS; central scotomas | Tables 1\-3; Table 2 gives heteroplasmy 65%.; Source: Patient 23; Family history yes. |

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