G15699C

# **General Information**

| **Position** | **15699** | **Variant** | **m.15699G\>C** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **R318P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.15699G\>C** variant in MT\-CYB has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 88%, with a median of 14% overall; affected carriers showed mutation loads from 13% to 88%, with a median of 15%; 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 (88%) than in blood (13%). The main clinical manifestations among affected carriers included deafness, migraine, mitochondrial Leukoencephalopathy, and myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15699 | m.15699G\>C | [G15699C\-F1](https://mitofam.com/doc/1953/) | UK | Mitochondrial Leukoencephalopathy, Deafness, Migraine, Myopathy | 1 | 0 | 2005 | [16008558](https://pubmed.ncbi.nlm.nih.gov/16008558/) |  |

# **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 | 15699 | m.15699G\>C | G15699C\-F1 | G15699C\-F1\-I1 | De novo | F | Y | Y | ND | 38 | 13% | 88% | 16% | 14% (H) | Mitochondrial Leukoencephalopathy, Deafness, Migraine, Myopathy |  |
| 2 | 15699 | m.15699G\>C | G15699C\-F1 | G15699C\-F1\-II1 | Fam | M | N | N | A | 10 | / | / | 0 | / | Healthy | Eligible negative\-tested maternal\-line descendant: mother/proband P1 has confirmed G15699C mutant loads; son urinary epithelial cells negative. |

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