T12297C

# General Information

| **Position** | **12297** | **Variant** | **m.12297T\>C** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 47\.30% | **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.12297T\>C** variant in MT\-TL2 has been reported in 4 pedigrees. To date, 15 carriers have been reported. Homoplasmy was reported in 2/15 carriers (13\.3%), and 8/15 carriers (53\.3%) were affected. The main clinical manifestations among affected carriers included leigh syndrome, idiopathic dilated cardiomyopathy, cardiomyopathy, dilated cardiomyopathy, heart failure, endocardial fibroelastosis, failure to thrive, and lactic acidosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12297 | m.12297T\>C |[ T12297C\-F1](https://mitofam.com/doc/821/) | Italy | Idiopathic dilated cardiomyopathy, endocardial fibroelastosis | 1 | 2 | 1999 | [10602359](https://pubmed.ncbi.nlm.nih.gov/10602359/) |  |
| 2 | 12297 | m.12297T\>C | T12297C\-F2 | Italy | Dilated cardiomyopathy | ND | ND | 2001 | [11313776](https://pubmed.ncbi.nlm.nih.gov/11313776/) | Carrying A12308G |
| 3 | 12297 | m.12297T\>C | [T12297C\-F3](https://mitofam.com/doc/822/) | USA | Leigh syndrome | 5 | 2 | 2009 | [19062322](https://pubmed.ncbi.nlm.nih.gov/19062322/) | Carrying T14487C |
| 4 | 12297 | m.12297T\>C | [T12297C\-F4](https://mitofam.com/doc/823/) | UK | Cardiomyopathy, failure to thrive, lactic acidosis | 1 | 0 | 2011 | [21882289](https://pubmed.ncbi.nlm.nih.gov/21882289/) |  |

# 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 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-I2 | Uninf | F | N | N | A | ND | / | 65% | / | / | Healthy |  |
| 2 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-II1 | Fam | M | Y | Y | A | 7 | / | \>95% | / | / | Idiopathic dilated cardiomyopathy, endocardial fibroelastosis |  |
| 3 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-II2 | Fam | F | N | Y | A | 9 | / | \>95% | / | / | Heart failure |  |
| 4 | 12297 | m.12297T\>C | T12297C\-F1 | T12297C\-F1\-II3 | Fam | M | N | Y | D | 15 months | / | / | / | / | Idiopathic dilated cardiomyopathy |  |
| 5 | 12297 | m.12297T\>C | T12297C\-F2 | T12297C\-F2\-P1 | Uninf | M | Y | Y | A | 36 | 70% | / | / | 88% (Heart) | Dilated cardiomyopathy | Carrying A12308G |
| 6 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-II5 | Uninf | F | N | N | A | 68 | 99\.9% | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 7 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III3 | Fam | F | N | N | A | 38 | 99\.9% | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 8 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III5 | Fam | M | N | Y | D | 15 | / | / | / | / | Leigh syndrome | Carrying T14487C |
| 9 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III6 | Fam | F | N | N | A | 35 | 99\.9% | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 10 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-III7 | Fam | F | N | Y | D | 13 months | / | / | / | / | Leigh syndrome | Carrying T14487C |
| 11 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-IV4 | Fam | M | N | N | A | 5 | / | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 12 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-IV5 | Fam | F | Y | Y | D | 10 months | / | 99\.9% | / | / | Leigh syndrome | Carrying T14487C |
| 13 | 12297 | m.12297T\>C | T12297C\-F3 | T12297C\-F3\-IV8 | Fam | F | N | N | A | 3 | / | / | 99\.9% | 99\.9% (H), 99\.9% (BM) | Healthy | Carrying T14487C |
| 14 | 12297 | m.12297T\>C | T12297C\-F4 | T12297C\-F4\-Ⅰ1 | Uninf | F | N | N | A | ND | Homo | / | Homo | / | Healthy |  |
| 15 | 12297 | m.12297T\>C | T12297C\-F4 | T12297C\-F4\-II1 | Fam | M | Y | Y | D | ND | Homo | Homo | Homo | / | Cardiomyopathy, failure to thrive, lactic acidosis |  |

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