C3093G

# **General Information**

| **Position** | **3093** | **Variant** | **m.3093C\>G** | **Locus** | **MT\-RNR2** | **RNA** | **16S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | N/A | **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.3093C\>G** variant in MT\-RNR2 has been reported in 1 pedigree. To date, 7 carriers have been reported. Reported mutation loads ranged from 0% to 51%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 51%, with a median of 0%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in hair (10%) than in blood (4%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (51%), hair (22%), and fibroblasts (45%) than in blood (9%). The main clinical manifestations among affected carriers included vomiting, MELAS, oligosymptomatic MELAS\-spectrum features, SNHL, blurred vision, chronic nephropathy, intestinal pseudo\-obstruction, myopathy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3093 | m.3093C\>G | [C3093G\-F1](https://mitofam.com/doc/1497/) | Taiwanese | MELAS syndrome with diabetes mellitus, hyperthyroidism and cardiomyopathy | 0 | 5 | 2001 | 11455195; 17660142 |  |

# **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 | 3093 | m.3093C\>G | C3093G\-F1 | C3093G\-F1\-I2 | Uninf | F | N | Y | D | 53 | 4% | / | / | 10% (H); 0 (F) | MELAS; SNHL; stroke\-like episodes; seizure; myopathy; vomiting; intestinal pseudo\-obstruction; chronic nephropathy | Mother of proband; died at age 64; C3093G positive in blood and hair, fibroblasts negative in the original study. |
| 2 | 3093 | m.3093C\>G | C3093G\-F1 | C3093G\-F1\-II2 | Fam | F | Y | Y | D | 30 | 9% | 51% | / | 22% (H); 45% (F) | MELAS; dementia; dilated cardiomyopathy; severe myopathy; intestinal pseudo\-obstruction; polyneuropathy; chronic nephropathy; diabetes; hyperthyroidism | Explicit proband; died at age 35; also harbored A3243G and a 260\-bp D\-loop duplication. |
| 3 | 3093 | m.3093C\>G | C3093G\-F1 | C3093G\-F1\-II3 | Fam | M | N | Y | D | 24 | / | / | / | / | Apparent MELAS; episodic migraine\-like headaches; vomiting; loss of vision; repeated focal seizures at age 24 | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 4 | 3093 | m.3093C\>G | C3093G\-F1 | C3093G\-F1\-II4 | Fam | M | N | ND | A | ND | / | / | / | / | Oligosymptomatic/asymptomatic | Figure 1/text identify II\-4 as oligosymptomatic/asymptomatic A3243G carrier; no C3093G molecular testing reported for II\-4; child of C3093G\-positive I\-2\. Highlighted for manual review and not counted in family H. |
| 5 | 3093 | m.3093C\>G | C3093G\-F1 | C3093G\-F1\-III1 | Fam | M | N | Y | A | 10 | 0 | / | / | 0 (H); 0 (F) | Oligosymptomatic MELAS\-spectrum features; occasional headache; nausea/vomiting; anorexia; blurred vision | Eligible negative\-tested son of C3093G\-positive proband II\-2; C3093G not detected in blood or hair; branch stop for descendants. |
| 6 | 3093 | m.3093C\>G | C3093G\-F1 | C3093G\-F1\-III2 | Fam | M | N | Y | A | 7 | 0 | / | / | 0 (H); 0 (F) | Oligosymptomatic MELAS\-spectrum features; mild memory impairment; mild limb ataxia; recurrent headache/vomiting; blurred vision | Eligible negative\-tested son of C3093G\-positive proband II\-2; C3093G not detected in blood or hair; branch stop for descendants. |
| 7 | 3093 | m.3093C\>G | C3093G\-F1 | C3093G\-F1\-III3 | Fam | M | N | Y | A | 4 | 0 | / | / | 0 (H); 0 (F) | MELAS; lactic acidemia; mental retardation; recurrent headache/nausea/vomiting; stroke\-like episodes; seizures; SNHL; myopathy | Eligible negative\-tested son of C3093G\-positive proband II\-2; C3093G not detected in blood or hair; branch stop for descendants. |

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