T2336C

# **General Information**

| **Position** | **2336** | **Variant** | **m.2336T\>C** | **Locus** | **MT\-RNR2** | **RNA** | **16S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | N/A | **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.2336T\>C** variant in MT\-RNR2 has been reported in 1 pedigree. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included complete AV block, HCM, atrial fibrillation and pacing, non\-obstructive HCM, onset age 29, onset age 32, onset age 37, onset age 45, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 2336 | m.2336T\>C | T2336C\-F1 | China | Hypertrophic cardiomyopathy with complete atrioventricular block | 1 | 3 | 2014 | 24367055; 30196098 |  |

# **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 | 2336 | m.2336T\>C | [T2336C\-F1](https://mitofam.com/doc/1504/) | T2336C\-F1\-II1 | Fam | F | N | Y | A | 59 | Homo | / | Homo | Homo (H); Homo (BM) | Non\-obstructive HCM; complete AV block; permanent pacemaker; onset age 45 |  |
| 2 | 2336 | m.2336T\>C | T2336C\-F1 | T2336C\-F1\-II3 | Fam | M | N | Y | A | 49 | Homo | / | Homo | Homo (H); Homo (BM) | HCM; complete AV block; atrial fibrillation and pacing; onset age 37 |  |
| 3 | 2336 | m.2336T\>C | T2336C\-F1 | T2336C\-F1\-III1 | Fam | M | N | Y | A | 38 | Homo | / | Homo | Homo (H); Homo (BM) | HCM; complete AV block; atrial fibrillation and pacing; onset age 32 |  |
| 4 | 2336 | m.2336T\>C | T2336C\-F1 | T2336C\-F1\-III3 | Fam | M | Y | Y | A | 32 | Homo | / | Homo | Homo (H); Homo (BM) | HCM; complete AV block; pacing; progression toward dilated cardiomyopathy and heart failure; onset age 29 |  |

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