T8418C

# **General Information**

| **Position** | **8418** | **Variant** | **m.8418T\>C** | **Locus** | **MT\-ATP8** | **Amino\-AcidChange** | **L18P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **Pathogenicity** | Reported \[VUS] |

"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.8418T\>C** variant in MT\-ATP8 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included severe bilateral optic neuropathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8418 | m.8418T\>C | T8418C\-F1 | Portugal | Severe bilateral optic neuropathy | 0 | 0 | 2017 | [28027978](https://pubmed.ncbi.nlm.nih.gov/28027978/) |  |

# **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 | 8418 | m.8418T\>C | T8418C\-F1 | T8418C\-F1\-II1 | Uninf | M | Y | Y | A | 44 | Homo | / | / | Homo(F) | Severe bilateral optic neuropathy |  |

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