C14342A

# **General Information**

| **Position** | **14342** | **Variant** | **m.14342C\>A** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **G111V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-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.14342C\>A** variant in MT\-ND6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 6\.4%, with a median of 6\.4% overall; affected carriers showed mutation loads from 6\.4%, with a median of 6\.4%. The main clinical manifestations among affected carriers included c. difficile infection, p pull\-through, septic shock, and congenital megacolon S.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14342 | m.14342C\>A | C14342A\-F1 | South Korea | Pediatric septic shock | 0 | 0 | 2021 | [33504965](https://pubmed.ncbi.nlm.nih.gov/33504965/) |  |

# **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 | 14342 | m.14342C\>A | C14342A\-F1 | C14342A\-F1\-P1 | Uninf | ND | ND | Y | A | 1\.8 | 6\.41% (PBMC) | / | / | / | Septic shock; congenital megacolon S/P pull\-through; C. difficile infection | Original label Patient 13 |

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