A7299G

# **General Information**

| **Position** | **7299** | **Variant** | **m.7299A\>G** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **M466V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **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.7299A\>G** variant in MT\-CO1 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, reduced visual acuity, cecocentral scotomas, central, centrocecal scotoma, hyperemic optic discs, and pale optic nerve heads.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7299 | m.7299A\>G | A7299G\-F1 | Lebanese | LHON | ND | ND | 2020 | [32358433](https://pubmed.ncbi.nlm.nih.gov/32358433/) | Carrying m.14568C\>T |
| 2 | 7299 | m.7299A\>G | A7299G\-F2 | Lebanese | LHON | ND | ND | 2020 | [32358433](https://pubmed.ncbi.nlm.nih.gov/32358433/) | Carrying m.14568C\>T |

# **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 | 7299 | m.7299A\>G | A7299G\-F1 | A7299G\-F1\-P1 | Fam | M | Y | Y | A | 24 | Homo | / | / | / | LHON; central/centrocecal scotoma; hyperemic optic discs; reduced visual acuity | Carrying m.14568C\>T |
| 2 | 7299 | m.7299A\>G | A7299G\-F2 | A7299G\-F2\-P2 | Uninf | ND | Y | Y | A | 16 | Homo | / | / | / | LHON; pale optic nerve heads; cecocentral scotomas; reduced visual acuity | Carrying m.14568C\>T |

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