T13340C

# **General Information**

| **Position** | **13340** | **Variant** | **m.13340T\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **F335S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-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.13340T\>C** variant in MT\-ND5 has been reported in 1 pedigree. 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, acute painless bilateral visual loss, and visual loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13340 | m.13340T\>C | T13340C\-F1 | Italy | LHON | 0 | 1 | 2021 | [34177762](https://pubmed.ncbi.nlm.nih.gov/34177762/) | Homoplasmic variant reported in affected family members.; Family 1; Family 1 clinical/genetic table.; Italy; Italian LHON families |

# **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 | 13340 | m.13340T\>C | T13340C\-F1 | T13340C\-F1\-P1 | Uninf | M | Y | Y | A | \>40 onset | Homo | / | / | / | Acute painless bilateral visual loss; LHON | Exact age not extractable beyond onset category.; Family 1 table.; Source: Patient 1 |
| 2 | 13340 | m.13340T\>C | T13340C\-F1 | T13340C\-F1\-P2 | Uninf | F | N | Y | A | \>50 onset | Homo | / | / | / | Visual loss/LHON | First\-degree relative in Family 1\.; Family 1 table.; Source: Patient 2 |

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