G3376A

# **General Information**

| **Position** | **3376** | **Variant** | **m.3376G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **E24K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | 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.3376G\>A** variant in MT\-ND1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 18% to 98%, with a median of 67% overall; affected carriers showed mutation loads from 18% to 98%, with a median of 67%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (98%) and urine (67%) than in blood (18%). The main clinical manifestations among affected carriers included optic atrophy Sensorineural deafness Myoclonus Hemiparesis Ataxia Lactic acidosis Occipital and thalamic lesions on MRI Mitochondrial myopathy Normal COX, progressive encephalopathy, progressive encephalopathy Cortical visual loss, and sDH histochemistry.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3376 | m.3376G\>A | [G3376A\-F1](https://mitofam.com/doc/1409/) | UK | Progressive encephalopathy,Progressive encephalopathyCortical visual loss / Optic atrophySensorineural deafnessMyoclonusHemiparesisAtaxiaLactic acidosisOccipital and thalamic lesions on MRIMitochondrial myopathyNormal COX/SDH histochemistry | 0 | 0 | 2005 | [15657614](https://pubmed.ncbi.nlm.nih.gov/15657614/) |  |

# **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 | 3376 | m.3376G\>A | G3376A\-F1 | G3376A\-F1\-II3 | De novo | F | Y | Y | A | 43 | 18% | 98% | 67% | / | Progressive encephalopathy,Progressive encephalopathyCortical visual loss / Optic atrophySensorineural deafnessMyoclonusHemiparesisAtaxiaLactic acidosisOccipital and thalamic lesions on MRIMitochondrial myopathyNormal COX/SDH histochemistry |  |

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