C6597A

# **General Information**

| **Position** | **6597** | **Variant** | **m.6597C\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **Q232K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.6597C\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 95%, with a median of 30% overall; affected carriers showed mutation loads from 30% to 95%, with a median of 55%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (95%) and urine (70%) than in blood (30%). The main clinical manifestations among affected carriers included mELAS\-like syndrome, exercise intolerance, limb\-girdle weakness, migraine, myalgia, seizures, and severe hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6597 | m.6597C\>A | [C6597A\-F1](https://mitofam.com/doc/898/) | Italian | MELAS\-like syndrome | 3 | 0 | 2012 | [22832341](https://pubmed.ncbi.nlm.nih.gov/22832341/) |  |

# **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 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-II3 | De novo | F | Y | Y | A | 35 | 30% | 95% | 70% | 40%(F) | MELAS\-like syndrome; seizures; severe hearing loss; migraine; exercise intolerance; myalgia; limb\-girdle weakness |  |
| 2 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-III1 | Fam | M | N | N | A | ND | / | / | 0 | / | Healthy |  |
| 3 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-III2 | Fam | F | N | N | A | ND | / | / | 0 | / | Healthy |  |
| 4 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-III3 | Fam | M | N | N | A | ND | / | / | 0 | / | Healthy |  |

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