T10189C

# **General Information**

| **Position** | **10189** | **Variant** | **m.10189T\>C** | **Locus** | **MT\-ND3** | **Amino\-AcidChange** | **M44T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-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.10189T\>C** variant in MT\-ND3 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 24% to 40%, with a median of 32% overall; affected carriers showed mutation loads from 24% to 40%, with a median of 32%. The main clinical manifestations among affected carriers included behavior alteration and dilated cardiomyopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10189 | m.10189T\>C | T10189C\-F1 | Portugal | Behavior alteration, dilated cardiomyopathy | 0 | 0 | 2019 | [30831263](https://pubmed.ncbi.nlm.nih.gov/30831263/) |  |

# **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 | 10189 | m.10189T\>C | T10189C\-F1 | T10189C\-F1\-P1 | De novo | M | Y | Y | ND | 8 y | 24% | 40% | / | / | Behavior alteration, dilated cardiomyopathy |  |

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