T618C

# **General Information**

| **Position** | **618** | **Variant** | **m.618T\>C** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 65\.80% | **Pathogenicity** | Reported \[VUS] |

"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.618T\>C** variant in MT\-TF has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 95%, with a median of 20% overall; affected carriers showed mutation loads from 20% to 95%, with a median of 57\.5%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (95%) than in blood (20%). The main clinical manifestations among affected carriers included and respiratory chain deficiencies in skeletal muscle, asthenic with general muscle weakness, general muscle weakness and pain, and ragged red fibers.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 618 | m.618T\>C | T618C\-F1 | Sweden | Mitochondrial myopathy | 1 | 2 | [9636664](https://pubmed.ncbi.nlm.nih.gov/9636664/) | 1998 |  |

# **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 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-I2 | Uninf | F | N | Y | D | 21 | ND | ND | ND | ND | asthenic with general muscle weakness |  |
| 2 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-II1 | Uninf | F | N | N | A | / | 0 | ND | ND | ND | / |  |
| 3 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-II2 | Uninf | M | Y | Y | A | 36 | 20% | 95% | ND | ND | general muscle weakness and pain, ragged red fibers, and respiratory chain deficiencies in skeletal muscle |  |
| 4 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-II3 | Uninf | ND | N | Y | D | 8 months | ND | ND | ND | ND | / |  |

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