A12397G

# **General Information**

| **Position** | **12397** | **Variant** | **m.12397A\>G** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **T21A** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.12397A\>G** variant in MT\-ND5 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 early\-onset parkinsonism, homozygous PINK1 W437X also present, and late\-onset Parkinson disease.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12397 | m.12397A\>G | A12397G\-F1 | Italy | parkinsonism | 0 | 1 | 2008 | [18524835](https://pubmed.ncbi.nlm.nih.gov/18524835/) | coexisting PINK1 W437X should be kept in notes.; Italian parkinsonism family; pages 1\-4; Italian family / Italian affiliations |

# **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 | 12397 | m.12397A\>G | A12397G\-F1 | A12397G\-F1\-II1 | Fam | ND | Y | Y | ND | 22 | Homo | / | / | Homo(F) | early\-onset parkinsonism; homozygous PINK1 W437X also present | blood and fibroblasts homoplasmic; results; Source: patient |
| 2 | 12397 | m.12397A\>G | A12397G\-F1 | A12397G\-F1\-I2 | Fam | F | N | Y | ND | 53 | Homo | / | / | / | late\-onset Parkinson disease | father blood normal for mtDNA mutation; results/key points; Source: mother |

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