A13379C

# **General Information**

| **Position** | **13379** | **Variant** | **m.13379A\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **H348P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Pathogenic | **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.13379A\>C** variant in MT\-ND5 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 50 OD and 20, 60 OS, lHON\-like bilateral optic neuropathy, small central scotomas, and visual acuity 20\.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13379 | m.13379A\>C | A13379C\-F1 | Saudi Arabia | LHON\-like optic neuropathy | 0 | 0 | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | Patient 21; Tables 1\-3\.; Saudi Arabia / Middle Eastern Arab; patients enrolled from Riyadh neuro\-ophthalmology clinics and all patients/control subjects were Middle Eastern Arabs. |

# **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 | 13379 | m.13379A\>C | A13379C\-F1 | A13379C\-F1\-P1 | Uninf | M | Y | Y | A | onset 15 y | Homo | / | / | / | LHON\-like bilateral optic neuropathy; visual acuity 20/50 OD and 20/60 OS; small central scotomas | Heteroplasmy / in table, interpreted as homoplasmic in blood sequencing.; Tables 1\-3\.; Source: Patient 21; Family history yes. |

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