G15215A

# **General Information**

| **Position** | **15215** | **Variant** | **m.15215G\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **G157Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **APOGEE2** | NA | **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.15215G\>A** variant in MT\-CYB has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 51% to 92%, with a median of 87% overall; affected carriers showed mutation loads from 51% to 92%, with a median of 87%. The main clinical manifestations among affected carriers included stroke, hyperlactacemia, intellectual impairment, and seizures.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15215 | m.15215G\>A | G15215A\-F1 | Argentina | Stroke, seizures, intellectual impairment, hyperlactacemia | NA | NA | 2024 | <https://www.ncbi.nlm.nih.gov/clinvar/variation/2687510/> |  |

# **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 | 15215 | m.15215G\>A | G15215A\-F1 | G15215A\-F1\-I1 | De novo | M | ND | Y | ND | 14 | 51% | 92% | 87% | / | Stroke, seizures, intellectual impairment, hyperlactacemia |  |

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