C15620A

# **General Information**

| **Position** | **15620** | **Variant** | **m.15620C\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **L292I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Benign | **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.15620C\>A** variant in MT\-CYB has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 57% to 90%, with a median of 73\.5% overall; affected carriers showed mutation loads from 90%, with a median of 90%; unaffected carriers showed mutation loads from 57%, with a median of 57%. The main clinical manifestations among affected carriers included leigh syndrome, mRI lesions, developmental delay, esotropia, gait difficulty, lactic acidosis, and tremor.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15620 | m.15620C\>A | [C15620A\-F1](https://mitofam.com/doc/1929/) | China | Leigh Syndrome, Tremor, Esotropia | 1 | 0 | 2014 | [24062162](https://pubmed.ncbi.nlm.nih.gov/24062162/) |  |

# **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 | 15620 | m.15620C\>A | C15620A\-F1 | C15620A\-F1\-I1 | Uninf | F | N | N | A | 30 | 57% | / | / | / | Healthy | Co\-occurring G11778A; mother muscle unavailable. |
| 2 | 15620 | m.15620C\>A | C15620A\-F1 | C15620A\-F1\-II1 | Fam | M | Y | Y | A | 3 | / | \>90% | / | / | Leigh syndrome; developmental delay; tremor; esotropia; gait difficulty; lactic acidosis; MRI lesions | Co\-occurring G11778A. |

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