G12192A

# **General Information**

| **Position** | **12192** | **Variant** | **m.12192G\>A** | **Locus** | **MT\-TH** | **RNA** | **tRNA His** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 4\.50% | **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.12192G\>A** variant in MT\-TH has been reported in 7 pedigrees. To date, 20 carriers have been reported. Homoplasmy was reported in 18/20 carriers (90%), and 13/20 carriers (65%) were affected. The main clinical manifestations among affected carriers included hearing Loss, cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, dilated cardiomyopathy with frequent premature ventricular contractions, dilated cardiomyopathy with heart failure, and LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12192 | m.12192G\>A | G12192A\-F1 | Japan | Cardiomyopathy | 0 | 2 | 2000 | [11038324](https://pubmed.ncbi.nlm.nih.gov/11038324/) |  |
| 2 | 12192 | m.12192G\>A | G12192A\-F2 | Japan | Cardiomyopathy | ND | ND | 2000 | [11038324](https://pubmed.ncbi.nlm.nih.gov/11038324/) |  |
| 3 | 12192 | m.12192G\>A | G12192A\-F3 | Japan | Cardiomyopathy | ND | ND | 2000 | [11038324](https://pubmed.ncbi.nlm.nih.gov/11038324/) |  |
| 4 | 12192 | m.12192G\>A | G12192A\-F4 | Japan | Cardiomyopathy | ND | ND | 2000 | [11038324](https://pubmed.ncbi.nlm.nih.gov/11038324/) |  |
| 5 | 12192 | m.12192G\>A | G12192A\-F5 | Japan | Cardiomyopathy | ND | ND | 2000 | [11038324](https://pubmed.ncbi.nlm.nih.gov/11038324/) |  |
| 6 | 12192 | m.12192G\>A | G12192A\-F6 | Japan | LHON, Cardiomyopathy | ND | ND | 2003 | [12560876](https://pubmed.ncbi.nlm.nih.gov/12560876/) | Carrying G11778A |
| 7 | 12192 | m.12192G\>A | [G12192A\-F7](https://mitofam.com/doc/591/) | China | Hearing Loss | 7 | 4 | 2019 | [30854964](https://pubmed.ncbi.nlm.nih.gov/30854964/) | Carrying G15927A |

# **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 | 12192 | m.12192G\>A | G12192A\-F1 | G12192A\-F1\-P1 | Fam | M | Y | Y | A | 60 | Homo | / | / | Homo (Cardiac) | Cardiomyopathy |  |
| 2 | 12192 | m.12192G\>A | G12192A\-F1 | G12192A\-F1\-P2 | Fam | M | N | Y | A | 56 | Homo | / | / | / | Dilated cardiomyopathy |  |
| 3 | 12192 | m.12192G\>A | G12192A\-F1 | G12192A\-F1\-P3 | Uninf | F | N | Y | D | ND | / | / | / | / | Cardiomyopathy |  |
| 4 | 12192 | m.12192G\>A | G12192A\-F2 | G12192A\-F2\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | Hypertrophic cardiomyopathy |  |
| 5 | 12192 | m.12192G\>A | G12192A\-F3 | G12192A\-F3\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | Hypertrophic cardiomyopathy |  |
| 6 | 12192 | m.12192G\>A | G12192A\-F4 | G12192A\-F4\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | Dilated cardiomyopathy with frequent premature ventricular contractions |  |
| 7 | 12192 | m.12192G\>A | G12192A\-F5 | G12192A\-F5\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | Dilated cardiomyopathy with heart failure |  |
| 8 | 12192 | m.12192G\>A | G12192A\-F6 | G12192A\-F6\-P1 | Uninf | M | Y | Y | A | 51 | Homo | / | / | / | LHON, Cardiomyopathy | Carrying G11778A |
| 9 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II1 | Fam | M | N | Y | A | 78 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 10 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II4 | Fam | F | N | Y | A | 80 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 11 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III8 | Fam | F | N | Y | A | 59 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 12 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III9 | Fam | M | N | Y | A | 57 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 13 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-IV8 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | Hearing Loss | Carrying G15927A |
| 14 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III7 | Uninf | M | N | N | A | 55 | 0 | / | / | / | Healthy |  |
| 15 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 16 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-II8 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy |  |
| 17 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III11 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 18 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-III13 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 19 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-IV5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 20 | 12192 | m.12192G\>A | G12192A\-F7 | G12192A\-F7\-IV6 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |

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