C5545T

# **General Information**

| **Position** | **5545** | **Variant** | **M.5545C\>T** | **Locus** | **MT\-TW** | **RNA** | **TRNA Trp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **MitoTIP** | 53\.00% | **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.5545C\>T** variant in MT\-TW has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 13% to 25%, with a median of 17% overall; affected carriers showed mutation loads from 13% to 25%, with a median of 17%. The main clinical manifestations among affected carriers included early\-onset mitochondrial multisystem disease.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5545 | M.5545C\>T | C5545T\-F1 | France | Early\-onset mitochondrial multisystem disease | 0 | 0 | 2008 | [18337306](https://pubmed.ncbi.nlm.nih.gov/18337306/) |  |

# **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 | 5545 | M.5545C\>T | C5545T\-F1 | C5545T\-F1\-P1 | De nove | M | Y | Y | ND | 3 | 13% | 25% | / | 17%(F) | Early\-onset mitochondrial multisystem disease |  |

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