T14723C

# **General Information**

| **Position** | **14723** | **Variant** | **m.14723T\>C** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 73\.50% | **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.14723T\>C** variant in MT\-TE has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 34%, with a median of 0% overall. In one carrier, the mutation was undetectable in blood (0%), urine (0%), and bone marrow (0%) but exceeded 20% in in 2008 (34%). The main clinical manifestations among affected carriers included No specific clinical features were available for affected carriers..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14723 | m.14723T\>C | T14723C\-F1 | UK | Bilateral ptosis, amblyopia, neck pain, limb ache, proximal weakness, facial weakness, ophthalmoplegia, eye deviation | 1 | 0 | 2010 | [20810132](https://pubmed.ncbi.nlm.nih.gov/20810132/) |  |

# **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 | 14723 | m.14723T\>C | T14723C\-F1 | T14723C\-F1\-I2 | Uninf | F | Y | Y | A | 63 | 0 | 7%(in 1997\) 34%(in 2008\) | 0 | 0% (BM) | Bilateral ptosis, amblyopia, neck pain, limb ache, proximal weakness, facial weakness, ophthalmoplegia, eye deviation |  |
| 2 | 14723 | m.14723T\>C | T14723C\-F1 | T14723C\-F1\-II1 | Fam | F | N | N | A | 39 | 0 | 0 | 0 | 0% (BM) | Healthy |  |

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