A10438G

# **General Information**

| **Position** | **10438** | **Variant** | **m.10438A\>G** | **Locus** | **MT\-TR** | **RNA** | **tRNA Arg** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 46\.20% | **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.10438A\>G** variant in MT\-TR has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 8% to 88%, with a median of 19% overall; affected carriers showed mutation loads from 73% to 88%, with a median of 80\.5%; unaffected carriers showed mutation loads from 8% to 19%, with a median of 17%. In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (17%) than in bone marrow (8%). The main clinical manifestations among affected carriers included moderate mental retardation, broad\-based gait, clumsiness, dysmyelination, nystagmus and decreased visual acuity, and weak facial muscles.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10438 | m.10438A\>G |[ A10438G\-F1](https://mitofam.com/doc/702/) | Finland | Mitochondrial encephalomyopathy | 3 | 0 | 2004 | [15286228](https://pubmed.ncbi.nlm.nih.gov/15286228/) |  |

# **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 | 10438 | m.10438A\>G | A10438G\-F1 | A10438G\-F1\-III1 | Fam | M | Y | Y | A | 10 | 73% | 88% | / | / | Moderate mental retardation; broad\-based gait/clumsiness; weak facial muscles; nystagmus and decreased visual acuity; dysmyelination |  |
| 2 | 10438 | m.10438A\>G | A10438G\-F1 | A10438G\-F1\-I2 | Uninf | F | N | N | A | ND | 17% | / | / | 8%(BM) | Healthy |  |
| 3 | 10438 | m.10438A\>G | A10438G\-F1 | A10438G\-F1\-II2 | Fam | F | N | N | A | ND | 19% | / | / | / | Healthy |  |

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