G10254A

# **General Information**

| **Position** | **10254** | **Variant** | **m.10254G\>A** | **Locus** | **MT\-ND3** | **Amino\-AcidChange** | **D66N** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.10254G\>A** variant in MT\-ND3 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 50% to 90%, with a median of 70% overall; affected carriers showed mutation loads from 50% to 90%, with a median of 70%. The main clinical manifestations among affected carriers included leigh disease, apnea, developmental regression, hypothermia, hypotonia, ophthalmoplegia, and weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10254 | m.10254G\>A | G10254A\-F1 | Israel | Leigh disease, complex I deficiency | 0 | 0 | 2010 | [20202874](https://pubmed.ncbi.nlm.nih.gov/20202874/) |  |

# **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 | 10254 | m.10254G\>A | G10254A\-F1 | G10254A\-F1\-P1 | De novo | M | Y | Y | D | 5 mo | 50% | 90% | / | / | Leigh disease, developmental regression, ophthalmoplegia, hypotonia/weakness, apnea, hypothermia |  |

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