T10609C

# **General Information**

| **Position** | **10609** | **Variant** | **m.10609T\>C** | **Locus** | **MT\-ND4L** | **Amino\-AcidChange** | **M47T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **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.10609T\>C** variant in MT\-ND4L has been reported in 1 pedigree. To date, 11 carriers have been reported. Homoplasmy was reported in 11/11 carriers (100%), and 7/11 carriers (63\.6%) were affected. The main clinical manifestations among affected carriers included LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10609 | m.10609T\>C | [T10609C\-F1](https://mitofam.com/doc/1176/) | Kuwait | LHON | 4 | 6 | 2014 | [24568867](https://pubmed.ncbi.nlm.nih.gov/24568867/) | Carrying T10663C; G4541A |

# **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 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V1 | Fam | M | N | Y | A | 24 | Homo | / | / | / | LHON | Carrying T10663C |
| 2 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V2 | Fam | M | N | N | A | 33 | Homo | / | / | / | Healthy | Carrying T10663C; G4541A |
| 3 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10663C; G4541A |
| 4 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V9 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10663C |
| 5 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI9 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | LHON | Carrying T10663C |
| 6 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI10 | Fam | M | N | Y | A | 18 | Homo | / | / | / | LHON | Carrying T10663C |
| 7 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI16 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10663C |
| 8 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI17 | Fam | M | N | Y | A | 22 | Homo | / | / | / | LHON | Carrying T10663C |
| 9 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI18 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carrying T10663C |
| 10 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI19 | Fam | M | N | Y | A | 14 | Homo | / | / | / | LHON | Carrying T10663C; G4541A |
| 11 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI20 | Fam | M | N | Y | A | 12 | Homo | / | / | / | LHON | Carrying T10663C |

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