G14258A

# **General Information**

| **Position** | **14258** | **Variant** | **m.14258G\>A** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **P139L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-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.14258G\>A** variant in MT\-ND6 has been reported in 3 pedigrees. To date, 5 carriers have been reported. Homoplasmy was reported in 5/5 carriers (100%), and 3/5 carriers (60%) were affected. The main clinical manifestations among affected carriers included LHON, bilateral optic nerve pallor and central scotoma, 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 | 14258 | m.14258G\>A | G14258A\-F1 | Italy | LHON | ND | ND | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) |  |
| 2 | 14258 | m.14258G\>A | G14258A\-F2 | Italy | LHON | ND | ND | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) |  |
| 3 | 14258 | m.14258G\>A | [G14258A\-F3](https://mitofam.com/doc/2113/) | Italy | LHON | 2 | 0 | 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 | 14258 | m.14258G\>A | G14258A\-F1 | G14258A\-F1\-IV1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | Homo (F) | LHON; bilateral optic nerve pallor and visual field defect |  |
| 2 | 14258 | m.14258G\>A | G14258A\-F2 | G14258A\-F2\-V6 | Fam | ND | Y | Y | ND | ND | Homo | / | / | Homo (F) | LHON; mild temporal pallor and central scotoma |  |
| 3 | 14258 | m.14258G\>A | G14258A\-F3 | G14258A\-F3\-IV2 | Fam | ND | Y | Y | ND | ND | Homo | / | / | Homo (F) | LHON; bilateral optic nerve pallor and central scotoma | also carried m.10680G\>A and m.12033A\>G |
| 4 | 14258 | m.14258G\>A | G14258A\-F3 | G14258A\-F3\-III2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 5 | 14258 | m.14258G\>A | G14258A\-F3 | G14258A\-F3\-IV1 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |

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