G10680A

# General Information

| **Position** | **10680** | **Variant** | **m.10680G\>A** | **Locus** | **MT\-ND4L** | **Amino\-AcidChange** | **A71T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | VUS\- | **Pathogenicity** | Reported / possibly synergistic |

"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.10680G\>A** variant in MT\-ND4L has been reported in 6 pedigrees. To date, 21 carriers have been reported. Homoplasmy was reported in 17/21 carriers (80\.95%), and 20/21 carriers (95\.24%) were affected. The main clinical manifestations among affected carriers included LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10680 | m.10680G\>A | [G10680A\-F1](https://mitofam.com/doc/1172/) | China | LHON | 0 | 14 | 2009 | [19394449](https://pubmed.ncbi.nlm.nih.gov/19394449/) | Carrying T14484C |
| 2 | 10680 | m.10680G\>A | G10680A\-F2 | China | LHON | ND | ND | 2010 | [20643099](https://pubmed.ncbi.nlm.nih.gov/20643099/) |  |
| 3 | 10680 | m.10680G\>A | G10680A\-F3 | China | LHON | ND | ND | 2012 | [22400981](https://pubmed.ncbi.nlm.nih.gov/22400981/) |  |
| 4 | 10680 | m.10680G\>A | G10680A\-F4 | China | LHON | ND | ND | 2012 | [22400981](https://pubmed.ncbi.nlm.nih.gov/22400981/) |  |
| 5 | 10680 | m.10680G\>A | [G10680A\-F5](https://mitofam.com/doc/1173/) | Italy | LHON | 2 | 0 | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) | Carrying A12033G, G14258A |
| 6 | 10680 | m.10680G\>A | G10680A\-F6 | Indian | LHON | ND | ND | 2025 | [40969215](https://pubmed.ncbi.nlm.nih.gov/40969215/) | Carrying G3460A, G11778A, T14484C |

# 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 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III1 | Fam | F | N | Y | A | 54 | Homo | / | / | / | LHON |  |
| 2 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III2 | Fam | F | N | Y | A | 50 | Homo | / | / | / | LHON |  |
| 3 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III3 | Fam | F | N | Y | A | 42 | Homo | / | / | / | LHON |  |
| 4 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III4 | Fam | F | N | Y | A | 36 | Homo | / | / | / | LHON |  |
| 5 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV1 | Fam | F | N | Y | A | 30 | Homo | / | / | / | LHON |  |
| 6 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV2 | Fam | F | N | Y | A | 27 | Homo | / | / | / | LHON |  |
| 7 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV4 | Fam | M | N | Y | A | 23 | Homo | / | / | / | LHON |  |
| 8 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV5 | Fam | F | N | Y | A | 19 | Homo | / | / | / | LHON |  |
| 9 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV8 | Fam | F | N | Y | A | 16 | Homo | / | / | / | LHON |  |
| 10 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV9 | Fam | M | N | Y | A | 11 | Homo | / | / | / | LHON |  |
| 11 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV10 | Fam | F | N | Y | A | 15 | Homo | / | / | / | LHON |  |
| 12 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV11 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON |  |
| 13 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV3 | Fam | M | N | Y | A | 25 | / | / | / | / | LHON |  |
| 14 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV6 | Fam | F | N | Y | A | 14 | / | / | / | / | LHON |  |
| 15 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV7 | Fam | M | N | Y | A | 10 | / | / | / | / | LHON |  |
| 16 | 10680 | m.10680G\>A | G10680A\-F2 | G10680A\-F2\-P1 | Uninf | M | Y | Y | ND | ND | Homo | / | / | / | LHON |  |
| 17 | 10680 | m.10680G\>A | G10680A\-F3 | G10680A\-F3\-P1 | Uninf | M | Y | Y | ND | 47 | / | / | / | Homo (DNA sample) | LHON |  |
| 18 | 10680 | m.10680G\>A | G10680A\-F4 | G10680A\-F4\-IV4 | Uninf | M | Y | Y | ND | 19 | / | / | / | Homo (DNA sample) | LHON |  |
| 19 | 10680 | m.10680G\>A | G10680A\-F5 | G10680A\-F5\-III2 | Uninf | F | N | N | A | ND | / | / | / | Homo (Other tissues) | Healthy |  |
| 20 | 10680 | m.10680G\>A | G10680A\-F5 | G10680A\-F5\-IV1 | Fam | M | Y | Y | A | ND | / | Homo | / | / | LHON | Carrying A12033G, G14258A |
| 21 | 10680 | m.10680G\>A | G10680A\-F6 | G10680A\-F6\-P1 | Uninf | M | Y | Y | A | 29 | \+ | / | / | / | LHON | Carrying G3460A, G11778A, T14484C |

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