A14582G

# **General Information**

| **Position** | **14582** | **Variant** | **m.14582A\>G** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **V31A** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **Pathogenicity** | Reported: individually neutral variants causing LHON in combination |

"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.14582A\>G** variant in MT\-ND6 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included LHON, bilateral optic nerve pallor and visual field defect, and mild temporal pallor and central scotoma.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14582 | m.14582A\>G | A14582G\-F1 | Italy | LHON | ND | ND | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) |  |
| 2 | 14582 | m.14582A\>G | A14582G\-F2 | Italy | LHON | ND | ND | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) |  |

# **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 | 14582 | m.14582A\>G | A14582G\-F1 | A14582G\-F1\-IV1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | Homo (F) | LHON; bilateral optic nerve pallor and visual field defect |  |
| 2 | 14582 | m.14582A\>G | A14582G\-F2 | A14582G\-F2\-V6 | Fam | ND | Y | Y | ND | ND | Homo | / | / | Homo (F) | LHON; mild temporal pallor and central scotoma |  |

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