A13615G

# **General Information**

| **Position** | **13615** | **Variant** | **m.13615A\>G** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **I427V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Benign | **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.13615A\>G** variant in MT\-ND5 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 99\.9%, with a median of 99\.9% overall; affected carriers showed mutation loads from 99\.9%, with a median of 99\.9%. The main clinical manifestations among affected carriers included bilateral progressive vision loss and sensorineural hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13615 | m.13615A\>G | A13615G\-F1 | Canada | LHON | 0 | 0 | 2024 | [38741249](https://pubmed.ncbi.nlm.nih.gov/38741249/) | Patient 2; Case 2\.; Canada; Toronto clinical context. |

# **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 | 13615 | m.13615A\>G | A13615G\-F1 | A13615G\-F1\-P1 | Uninf | F | Y | Y | A | 31 y | / | / | / | 99\.9%(ND) | Bilateral progressive vision loss; sensorineural hearing loss | Case 2 and sequencing results.; Source: Patient 2 |

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