G9267C

# **General Information**

| **Position** | **9267** | **Variant** | **m.9267G\>C** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **A21P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.9267G\>C** variant in MT\-CO3 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0%, with a median of 0% overall; unaffected carriers showed mutation loads from 0%, with a median of 0%. The main clinical manifestations among affected carriers included mitochondrial diabetes, deafness, high blood pressure, and severe nephropathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9267 | m.9267G\>C | [G9267C\-F1](https://mitofam.com/doc/1666/) | Tunisia | Maternally inherited diabetes and deafness; high blood pressure; severe nephropathy in II.1 | 1 | 2 | 2015 | [25701779](https://pubmed.ncbi.nlm.nih.gov/25701779/) |  |

# **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 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-I1 | Uninf | F | ND | Y | A | 57 | / | / | / | / | Mitochondrial diabetes, deafness, high blood pressure |  |
| 2 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-II1 | Fam | F | ND | Y | A | 21 | / | / | / | / | Mitochondrial diabetes, deafness, high blood pressure, severe nephropathy |  |
| 3 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-II2 | Fam | F | ND | Y | A | 27 | / | / | / | / | Mitochondrial diabetes, deafness, high blood pressure |  |
| 4 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-III1 | Fam | M | N | N | A | 2 | 0% | / | / | / | Unaffected for mitochondrial diabetes, deafness, high blood pressure, and nephropathy in Table 1 |  |

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