T14498C

# **General Information**

| **Position** | **14498** | **Variant** | **m.14498T\>C** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **Y59C** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **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.14498T\>C** variant in MT\-ND6 has been reported in 1 pedigree. To date, 3 carriers have been reported. Homoplasmy was reported in 1/3 carriers (33\.3%), and 2/3 carriers (66\.7%) were affected. The main clinical manifestations among affected carriers included LHON, onset age 46, and severe visual loss with minute visual acuity and very large central scotomas.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14498 | m.14498T\>C | [T14498C\-F1](https://mitofam.com/doc/2156/) | Germany | LHON | 1 | 3 | 1997 | [9177303](https://pubmed.ncbi.nlm.nih.gov/9177303/) |  |

# **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 | 14498 | m.14498T\>C | T14498C\-F1 | T14498C\-F1\-II2 | Fam | F | N | Y | ND | 46 | 50% | / | / | / | LHON; severe visual loss with minute visual acuity and very large central scotomas; onset age 46 | Original label LHON65II2 |
| 2 | 14498 | m.14498T\>C | T14498C\-F1 | T14498C\-F1\-II3 | Fam | F | N | N | ND | ND | 50% | / | / | / | Healthy | Original label LHON65II3 |
| 3 | 14498 | m.14498T\>C | T14498C\-F1 | T14498C\-F1\-IV1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | Original label LHON65IV1 |

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