G9952A

# **General Information**

| **Position** | **9952** | **Variant** | **m.9952G\>A** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **W249Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.9952G\>A** variant in MT\-CO3 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 57%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 57%, with a median of 5%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%), skin (0%), and myoblasts/f (0%) but exceeded 20% in muscle (57%) and cox\-negative fibers (56\.2%). The main clinical manifestations among affected carriers included recurrent encephalopathy with lactic acidemia, exercise intolerance, fatigue, isolated COX deficiency, migraine\-type headaches, myalgia, and proximal myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9952 | m.9952G\>A | [G9952A\-F1](https://mitofam.com/doc/1676/) | United Kingdom | Recurrent encephalopathy; lactic acidemia; exercise intolerance; proximal myopathy; isolated COX deficiency | 3 | 0 | 1998 | [9634511](https://pubmed.ncbi.nlm.nih.gov/9634511/) |  |

# **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 | 9952 | m.9952G\>A | G9952A\-F1 | G9952A\-F1\-I1 | De novo | F | Y | Y | A | 36 | 0% | 57% | / | 0%(skin); 0%(myoblasts/F); 56\.2%(COX\-negative fibers); 10\.1%(COX\-positive fibers) | Recurrent encephalopathy with lactic acidemia, exercise intolerance, proximal myopathy, fatigue, myalgia, migraine\-type headaches, isolated COX deficiency |  |
| 2 | 9952 | m.9952G\>A | G9952A\-F1 | G9952A\-F1\-II1 | Fam | M | N | N | A | 16 | 0% | 0% | / | 0%(myoblasts) | Episodes of myalgia; normal muscle function/good athlete; nocturnal confusion and visual hallucinations; no respiratory\-chain dysfunction |  |
| 3 | 9952 | m.9952G\>A | G9952A\-F1 | G9952A\-F1\-II2 | Fam | M | N | N | A | 15 | 0% | 0% | / | 0%(myoblasts) | Episodes of myalgia; normal muscle function/good athlete; no respiratory\-chain dysfunction |  |
| 4 | 9952 | m.9952G\>A | G9952A\-F1 | G9952A\-F1\-II3 | Fam | M | N | N | A | 10 | / | / | / | / | Healthy/well |  |

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