A13045C

# **General Information**

| **Position** | **13045** | **Variant** | **m.13045A\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **M237L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-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.13045A\>C** variant in MT\-ND5 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 13% to 82%, with a median of 47\.5% overall; affected carriers showed mutation loads from 13% to 82%, with a median of 47\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (82%) than in blood (13%). The main clinical manifestations among affected carriers included macrocephaly, ataxia, brainstem lesions, cognitive impairment, learning difficulties, migraine\-like episodes, nystagmus, optic atrophy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13045 | m.13045A\>C | A13045C\-F1 | United Kingdom | MELAS/Leigh overlap | 0 | 0 | 2003 | [12509858](https://pubmed.ncbi.nlm.nih.gov/12509858/) |  |

# **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 | 13045 | m.13045A\>C | A13045C\-F1 | A13045C\-F1\-P1 | De novo | M | Y | Y | A | onset 6\.5 y | 13% | 82% | / | / | Macrocephaly, learning difficulties, migraine\-like episodes, brainstem lesions, seizures, nystagmus, optic atrophy, ataxia, cognitive impairment | Patient 2 |

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