G3700A

# **General Information**

| **Position** | **3700** | **Variant** | **m.3700G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **A132T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[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.3700G\>A** variant in MT\-ND1 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 1/2 carriers (50%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included LHON and late\-onset Leigh syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3700 | m.3700G\>A | G3700A\-F1 | China | Late\-onset Leigh syndrome | 0 | 0 | 2018 | [30128709](https://pubmed.ncbi.nlm.nih.gov/30128709/) |  |
| 2 | 3700 | m.3700G\>A | G3700A\-F2 | India | LHON | 0 | 0 | 2022 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | Haplogroup R6a2; p.A132T; conservation 93\.33\. |

# **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 | 3700 | m.3700G\>A | G3700A\-F1 | G3700A\-F1\-I1 | Uninf | F | Y | Y | A | 3 | Homo | / | / | / | Late\-onset Leigh syndrome |  |
| 2 | 3700 | m.3700G\>A | G3700A\-F2 | G3700A\-F2\-I1 | Uninf | M | Y | Y | A | 29 | Positive | / | / | / | LHON | Haplogroup R6a2; p.A132T; conservation 93\.33\. |

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