T5567C

# General Information

| **Position** | **5567** | **Variant** | **M.5567T\>C** | **Locus** | **MT\-TW** | **RNA** | **TRNA Trp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **MitoTIP** | 32\.70% | **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.5567T\>C** variant in MT\-TW has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 30% to 90%, with a median of 45% overall; affected carriers showed mutation loads from 30% to 90%, with a median of 45%. The main clinical manifestations among affected carriers included lethal infantile mitochondrial disease(LIMD), mitochondrial myopathy with fatigue, dysphagia and fluctuating gait instability, and muscle weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5567 | M.5567T\>C | T5567C\-F1 | UK/Australia | Lethal infantile mitochondrial disease(LIMD) | 0 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) |  |
| 2 | 5567 | M.5567T\>C | T5567C\-F2 | Italy | Mitochondrial myopathy | 0 | 0 | 2009 | [18977334](https://pubmed.ncbi.nlm.nih.gov/18977334/) |  |

# 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 | 5567 | M.5567T\>C | T5567C\-F1 | T5567C\-F1\-P1 | De novo | / | Y | Y | D | Birth | / | \>90% | / | / | Lethal infantile mitochondrial disease(LIMD) |  |
| 2 | 5567 | M.5567T\>C | T5567C\-F2 | T5567C\-F2\-P1 | De novo | F | Y | Y | A | 68 | ND | 50% | 40% | 30%(F) | Mitochondrial myopathy with fatigue, muscle weakness, dysphagia and fluctuating gait instability |  |

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