G7970T

# **General Information**

| **Position** | **7970** | **Variant** | **m.7970G\>T** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **E129Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.7970G\>T** variant in MT\-CO2 has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 10% to 90%, with a median of 15% overall; affected carriers showed mutation loads from 90%, with a median of 90%; unaffected carriers showed mutation loads from 10% to 15%, with a median of 12\.5%. The main clinical manifestations among affected carriers included bilateral cataract, ataxia, cardiac arrhythmia, depression, lactic acidosis, metabolic coma, myopathy, sensorineural hearing loss, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7970 | m.7970G\>T |[ G7970T\-F1 ](https://mitofam.com/doc/1653/)| Germany | Multisystem mitochondrial disease; COX deficiency | 2 | 0 | 2005 | [16288875](https://pubmed.ncbi.nlm.nih.gov/16288875/) |  |

# **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 | 7970 | m.7970G\>T | G7970T\-F1 | G7970T\-F1\-I1 | Uninf | M | Y | Y | D | 35 | / | 90% | / | / | Bilateral cataract, sensorineural hearing loss, myopathy, ataxia, cardiac arrhythmia, depression, short stature, metabolic coma, lactic acidosis |  |
| 2 | 7970 | m.7970G\>T | G7970T\-F1 | G7970T\-F1\-II1 | Fam | F | N | N | A | ND | 10%\-15% | / | / | / | Healthy |  |
| 3 | 7970 | m.7970G\>T | G7970T\-F1 | G7970T\-F1\-II2 | Fam | F | N | ND | A | ND | 10%\-15% | / | 10%\-15% | / | Mild motor developmental delay and learning difficulties after premature birth |  |

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