G4142A

# **General Information**

| **Position** | **4142** | **Variant** | **m.4142G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **R279Q** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Reported \[VUS] |

"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.4142G\>A** variant in MT\-ND1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 68\.7% to 85\.7%, with a median of 77\.2% overall; affected carriers showed mutation loads from 68\.7% to 85\.7%, with a median of 77\.2%. The main clinical manifestations among affected carriers included developmental delay and seizures and hypotonia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4142 | m.4142G\>A | G4142A\-F1 | USA | Developmental delay / seizures / hypotonia | 0 | 0 | 2013 | [23463613](https://pubmed.ncbi.nlm.nih.gov/23463613/) |  |

# **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 | 4142 | m.4142G\>A | G4142A\-F1 | G4142A\-F1\-I1 | De novo | ND | Y | Y | A | 10 | 68\.7% | 85\.7% | / | / | Developmental delay, seizures and hypotonia | Mother blood 0\. |

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