G3380A

# **General Information**

| **Position** | **3380** | **Variant** | **m.3380G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **R25Q** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported \[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.3380G\>A** variant in MT\-ND1 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 50%, with a median of 0% overall; affected carriers showed mutation loads from 7% to 50%, with a median of 28\.5%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (50%) than in blood (7%). The main clinical manifestations among affected carriers included MELAS.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3380 | m.3380G\>A | G3380A\-F1 | Germany | MELAS Bilateral sensorineural hearing lossStatus epilepticusStroke\-like episodesCortical blindnessGlobal aphasiaHemiparesisHemianopiaAtaxiaPallhypesthesiaNon\-vascular cortical lesions on MRI | ND | ND | 2008 | [18590963](https://pubmed.ncbi.nlm.nih.gov/18590963/) |  |

# **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 | 3380 | m.3380G\>A | G3380A\-F1 | G3380A\-F1\-II2 | Uninf | F | Y | Y | A | 62 | 7% | 50% | / | / | MELAS |  |
| 2 | 3380 | m.3380G\>A | G3380A\-F1 | G3380A\-F1\-III1 | Uninf | M | N | N | A | 34 | 0 | / | / | / | healthy |  |
| 3 | 3380 | m.3380G\>A | G3380A\-F1 | G3380A\-F1\-III2 | Uninf | M | N | N | A | 31 | 0 | / | / | / | healthy |  |
| 4 | 3380 | m.3380G\>A | G3380A\-F1 | G3380A\-F1\-III3 | Uninf | M | N | N | A | 27 | 0 | / | / | / | healthy |  |

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