A10372G

# **General Information**

| **Position** | **10372** | **Variant** | **m.10372A\>G** | **Locus** | **MT\-ND3** | **Amino\-AcidChange** | **E105G** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.10372A\>G** variant in MT\-ND3 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 97%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 97%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%), urine (0%), and myoblasts (0%) but exceeded 20% in muscle (97%). The main clinical manifestations among affected carriers included adult\-onset sensorimotor axonal polyneuropathy, blurred vision, muscle weakness, myopathy, and painful paresthesia and numbness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10372 | m.10372A\>G | A10372G\-F1 | Sweden | Polyneuropathy | 0 | 0 | 2021 | [33732874](https://pubmed.ncbi.nlm.nih.gov/33732874/) |  |

# **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 | 10372 | m.10372A\>G | A10372G\-F1 | A10372G\-F1\-P1 | De novo | F | Y | Y | A | 41 y | 0 | 97% | 0 | 3%(F); 0%(Myoblasts) | Adult\-onset sensorimotor axonal polyneuropathy, painful paresthesia and numbness, muscle weakness/myopathy, blurred vision |  |

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