T14319C

# **General Information**

| **Position** | **14319** | **Variant** | **m.14319T\>C** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **N119D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **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.14319T\>C** variant in MT\-ND6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included parkinson disease reported at age 53 and very early onset parkinsonism with PINK1 W437X homozygous.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14319 | m.14319T\>C | T14319C\-F1 | Italy | early\-onset parkinsonism | 0 | 1 | 2008 | [18524835](https://pubmed.ncbi.nlm.nih.gov/18524835/) |  |

# **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 | 14319 | m.14319T\>C | T14319C\-F1 | T14319C\-F1\-P1 | Fam | ND | Y | Y | ND | 22 | Homo | / | / | Homo (F) | Very early onset parkinsonism with PINK1 W437X homozygous |  |
| 2 | 14319 | m.14319T\>C | T14319C\-F1 | T14319C\-F1\-P2 | Fam | F | N | Y | ND | 53 | Homo | / | / | / | Parkinson disease reported at age 53 |  |

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