G3688A

# **General Information**

| **Position** | **3688** | **Variant** | **m.3688G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **A128T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.3688G\>A** variant in MT\-ND1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included leigh syndrome, basal ganglia and midbrain lesions, complex I deficiency, psychomotor regression, and seizures.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3688 | m.3688G\>A | G3688A\-F1 | Italy | Leigh syndrome / mitochondrial encephalomyopathy | 0 | 0 | 2009 | [18977334](https://pubmed.ncbi.nlm.nih.gov/18977334/) |  |

# **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 | 3688 | m.3688G\>A | G3688A\-F1 | G3688A\-F1\-I1 | De novo | M | Y | Y | A | 10 mo | Homo | Homo | / | Homo (F) | Leigh syndrome, seizures, psychomotor regression, basal ganglia and midbrain lesions, complex I deficiency | Mother negative in blood lymphocytes and F. |

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