T3396C

# **General Information**

| **Position** | **3396** | **Variant** | **m.3396T\>C** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **Y30Y** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **Pathogenicity** | Reported / Unclear |

"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.3396T\>C** variant in MT\-ND1 has been reported in 1 pedigree. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 3/4 carriers (75%) were affected. The main clinical manifestations among affected carriers included nonsyndromic hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3396 | m.3396T\>C | [T3396C\-F1](https://mitofam.com/doc/1480/) | Tunisia | Nonsyndromic hearing loss | 1 | 2 | 2007 | [17336924](https://pubmed.ncbi.nlm.nih.gov/17336924/) | Carrying A3243G. |

# **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 | 3396 | m.3396T\>C | T3396C\-F1 | T3396C\-F1\-III1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |
| 2 | 3396 | m.3396T\>C | T3396C\-F1 | T3396C\-F1\-IV2 | Fam | F | N | N | A | ND | Homo | / | / | / | Normal hearing |  |
| 3 | 3396 | m.3396T\>C | T3396C\-F1 | T3396C\-F1\-V1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |
| 4 | 3396 | m.3396T\>C | T3396C\-F1 | T3396C\-F1\-V2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |

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