T16189C

# **General Information**

| **Position** | **16189** | **Variant** | **m.16189T\>C** | **Locus** | **MT\-CR** | **Amino\-AcidChange** | **noncoding** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **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.16189T\>C** variant in MT\-CR has been reported in 4 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included lV dilated, LVNC, dilated cardiomyopathy, ebstein's syndrome, type 2 diabetes, macular pattern dystrophy, myopathy, ragged red fibers, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 16189 | m.16189T\>C | T16189C\-F1 | France | Dilated cardiomyopathy | 0 | 0 | 2005 | [15880407](https://pubmed.ncbi.nlm.nih.gov/15880407/) | Patient PC; no family history. |
| 2 | 16189 | m.16189T\>C | T16189C\-F2 | France | Diabetes, macular dystrophy, myopathy | 0 | 4 | 2005 | [15880407](https://pubmed.ncbi.nlm.nih.gov/15880407/) | Patient PD; clinical\-only maternal relatives counted for G/H, not carrier. |
| 3 | 16189 | m.16189T\>C | T16189C\-F3 | China | Left ventricular non\-compaction cardiomyopathy | 0 | 0 | 2013 | [23465694](https://pubmed.ncbi.nlm.nih.gov/23465694/) | Singleton LVNC patient; no pedigree. m.16189T\>C reported from myocardial Sanger sequencing; authors classify it as a common polymorphism, not a pathogenic LVNC mutation. |
| 4 | 16189 | m.16189T\>C | T16189C\-F4 | China | Left ventricular non\-compaction cardiomyopathy, Ebstein's anomaly | 0 | 0 | 2013 | [23465694](https://pubmed.ncbi.nlm.nih.gov/23465694/) | Singleton LVNC patient; no pedigree. m.16189T\>C reported from myocardial Sanger sequencing; authors classify it as a common polymorphism, not a pathogenic LVNC mutation. |

# **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 | 16189 | m.16189T\>C | T16189C\-F1 | T16189C\-F1\-PC | Uninf | M | Y | Y | ND | 10 | / | Homo | / | / | Dilated cardiomyopathy, respiratory chain defect, ragged red fibers | No family history; target tested in muscle biopsy DNA. |
| 2 | 16189 | m.16189T\>C | T16189C\-F2 | T16189C\-F2\-PD | Fam | F | Y | Y | ND | 51 | Homo | / | / | / | Type 2 diabetes, macular pattern dystrophy, myopathy | Sister and niece deaf; mother and maternal grandmother had diabetes; relatives not molecularly tested. |
| 3 | 16189 | m.16189T\>C | T16189C\-F3 | T16189C\-F3\-Patient4 | Uninf | M | Y | Y | ND | 15 | / | / | / | Homo(myocardium) | LVNC, LV dilated | Myocardial Sanger sequencing; no numeric mutant load reported. Authors state m.16189T\>C is a common polymorphism and not a pathogenic point mutation causing LVNC. |
| 4 | 16189 | m.16189T\>C | T16189C\-F4 | T16189C\-F4\-Patient5 | Uninf | M | Y | Y | ND | 13 | / | / | / | Homo(myocardium) | LVNC, LV dilated, Ebstein's syndrome | Myocardial Sanger sequencing; no numeric mutant load reported. Authors state m.16189T\>C is a common polymorphism and not a pathogenic point mutation causing LVNC. |

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