A14495G

# **General Information**

| **Position** | **14495** | **Variant** | **m.14495A\>G** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **L60S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | 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.14495A\>G** variant in MT\-ND6 has been reported in 3 pedigrees. To date, 8 carriers have been reported. Reported mutation loads ranged from 23% to 93%, with a median of 52% overall; affected carriers showed mutation loads from 41% to 93%, with a median of 83%; unaffected carriers showed mutation loads from 23% to 53%, with a median of 37%. The main clinical manifestations among affected carriers included LHON, bilateral optic atrophy, 9, mRI left optic nerve signal, bilateral central scotomata, bilateral central visual loss, bilateral sequential visual loss at 10, bilateral temporal disc pallor, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14495 | m.14495A\>G | [A14495G\-F1](https://mitofam.com/doc/2086/) | United Kingdom | Leber hereditary optic neuropathy | 3 | 2 | 2001 | [11133798](https://pubmed.ncbi.nlm.nih.gov/11133798/) |  |
| 2 | 14495 | m.14495A\>G | A14495G\-F2 | Canada | Leber hereditary optic neuropathy | 0 | 0 | 2001 | [11133798](https://pubmed.ncbi.nlm.nih.gov/11133798/) |  |
| 3 | 14495 | m.14495A\>G | A14495G\-F3 | China | LHON | 0 | 0 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |

# **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 | 14495 | m.14495A\>G | A14495G\-F1 | A14495G\-F1\-II2 | Fam | F | ND | Y | A | 53 | 51% | / | / | / | LHON; bilateral central scotomata; bilateral optic atrophy; onset 30 | Original label II\-2 |
| 2 | 14495 | m.14495A\>G | A14495G\-F1 | A14495G\-F1\-II3 | Fam | F | ND | N | A | 53 | 23% | / | / | / | Healthy | Original label II\-3 |
| 3 | 14495 | m.14495A\>G | A14495G\-F1 | A14495G\-F1\-III1 | Fam | M | ND | Y | A | 28 | 93% | / | / | / | LHON; bilateral sequential visual loss at 10; improved to 6/9; bilateral temporal disc pallor | Original label III\-1 |
| 4 | 14495 | m.14495A\>G | A14495G\-F1 | A14495G\-F1\-III2 | Fam | M | ND | Y | A | 26 | 92% | / | / | / | LHON; bilateral central visual loss; optic disc swelling; MRI left optic nerve signal | Original label III\-2 |
| 5 | 14495 | m.14495A\>G | A14495G\-F1 | A14495G\-F1\-III3 | Fam | M | ND | N | A | 35 | 37% | / | / | / | Healthy | Original label III\-3 |
| 6 | 14495 | m.14495A\>G | A14495G\-F1 | A14495G\-F1\-III4 | Fam | F | ND | N | A | 33 | 53% | / | / | / | Healthy | Original label III\-4 |
| 7 | 14495 | m.14495A\>G | A14495G\-F2 | A14495G\-F2\-P1 | Fam | M | Y | Y | A | 52 | 83% | / | / | / | LHON; subacute bilateral visual failure at 17; bilateral optic atrophy; registered blind |  |
| 8 | 14495 | m.14495A\>G | A14495G\-F3 | A14495G\-F3\-P1 | Fam | ND | Y | Y | ND | ND | 41% | / | / | / | LHON |  |

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