T5613C

# **General Information**

| **Position** | **5613** | **Variant** | **m.5613T\>C** | **Locus** | **MT\-TA** | **RNA** | **tRNA Ala** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 59\.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.5613T\>C** variant in MT\-TA has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 96%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 96%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and urine (0%) but exceeded 20% in muscle (96%). The main clinical manifestations among affected carriers included bilateral deafness, bilateral ophthalmoparesis, dysphagia, dysphonia, mild proximal limb weakness, numbness, and progressive eyelid ptosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5613 | m.5613T\>C | T5613C\-F1 | Italy | Chronic progressive external ophthalmoplegia | ND | ND | 2016 | [27014581](https://pubmed.ncbi.nlm.nih.gov/27014581/) |  |

# **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 | 5613 | m.5613T\>C | T5613C\-F1 | T5613C\-F1\-P1 | Uninf | F | Y | Y | ND | 70 | 0 | 96% | 0 | / | Progressive eyelid ptosis,Bilateral ophthalmoparesis,Dysphagia,Dysphonia,Mild proximal limb weakness,Numbness,Bilateral deafness |  |

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