C10134A

# **General Information**

| **Position** | **10134** | **Variant** | **m.10134C\>A** | **Locus** | **MT\-ND3** | **Amino\-AcidChange** | **Q26K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.10134C\>A** variant in MT\-ND3 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 1/2 carriers (50%), and 1/2 carriers (50%) were affected. The main clinical manifestations among affected carriers included leigh syndrome, abnormal gait, delayed speech, developmental delay, and regression.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10134 | m.10134C\>A | [C10134A\-F1](https://mitofam.com/doc/1199/) | Australia | Leigh syndrome | 1 | 0 | 2014 | [25118196](https://pubmed.ncbi.nlm.nih.gov/25118196/) |  |

# **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 | 10134 | m.10134C\>A | C10134A\-F1 | C10134A\-F1\-Ⅰ1 | Fam | F | N | N | A | ND | 1% | / | / | / | Healthy |  |
| 2 | 10134 | m.10134C\>A | C10134A\-F1 | C10134A\-F1\-Ⅱ1 | Fam | F | Y | Y | A | 5 y | 99\.9% | Homo | / | Homo(F); Homo(liver) | Leigh syndrome, developmental delay/regression, abnormal gait, delayed speech |  |

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