A13379G

# **General Information**

| **Position** | **13379** | **Variant** | **m.13379A\>G** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **H348R** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[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\>G** variant in MT\-ND5 has been reported in 2 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 2/4 carriers (50%), and 3/4 carriers (75%) were affected. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in fibroblasts (100%) than in blood (47%). The main clinical manifestations among affected carriers included lHON visual loss, LHON, and sudden painless bilateral visual loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13379 | m.13379A\>G |[ A13379G\-F1](https://mitofam.com/doc/1313/) | Russia | LHON | 1 | 0 | 2020 | [31669237](https://pubmed.ncbi.nlm.nih.gov/31669237/) | Patient 2 family; Table 1\.; Russia inferred from Moscow clinical/research institutions and patient context. |
| 2 | 13379 | m.13379A\>G | A13379G\-F2 | Italy | LHON | 0 | 1 | 2021 | [34177762](https://pubmed.ncbi.nlm.nih.gov/34177762/) | Homoplasmic variant reported in affected family members.; Family 2; Family 2 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 | 13379 | m.13379A\>G | A13379G\-F1 | A13379G\-F1\-II1 | Fam | ND | Y | Y | A | onset 24 y | 47% | / | 72% | 100%(F) | Sudden painless bilateral visual loss; LHON | Table 1\.; Source: Patient 2 |
| 2 | 13379 | m.13379A\>G | A13379G\-F1 | A13379G\-F1\-I2 | Fam | F | N | N | A | ND | 45% | / | 78% | / | Healthy | Table 1\.; Source: Patient 2 mother |
| 3 | 13379 | m.13379A\>G | A13379G\-F2 | A13379G\-F2\-P1 | Uninf | M | Y | Y | A | 20\-40 onset | Homo | / | / | / | LHON visual loss | Exact age not extractable beyond category.; Family 2 table.; Source: Patient 3 |
| 4 | 13379 | m.13379A\>G | A13379G\-F2 | A13379G\-F2\-P2 | Uninf | M | N | Y | A | \<20 onset | Homo | / | / | / | LHON visual loss | Maternal relative in Family 2\.; Family 2 table.; Source: Patient 4 |

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