T5658C

# **General Information**

| **Position** | **5658** | **Variant** | **m.5658T\>C** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 94\.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.5658T\>C** variant in MT\-TN has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 4% to 65%, with a median of 13\.5% overall; affected carriers showed mutation loads from 4% to 65%, with a median of 13\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (65%), urine (17%), and kidney (less than 10%) than in blood (4%). The main clinical manifestations among affected carriers included myopathy, bilateral ptosis, and ophthalmoparesis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5658 | m.5658T\>C | T5658C\-F1 | Spain | Myopathy, bilateral ptosis, ophthalmoparesis | ND | ND | 2013 | [23375258](https://pubmed.ncbi.nlm.nih.gov/23375258/) |  |

# **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 | 5658 | m.5658T\>C | T5658C\-F1 | T5658C\-F1\-P1 | Uninf | M | Y | Y | A | 39 | 4% | 65% | 17% | \<10%(Kidney) | Myopathy, bilateral ptosis, ophthalmoparesis |  |

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