C869T

# **General Information**

| **Position** | **869** | **Variant** | **m.869C\>T** | **Locus** | **MT\-RNR1** | **RNA** | **12S 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.869C\>T** variant in MT\-RNR1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included aV block, hypertrophic cardiomyopathy, mid\-ventricular obstruction, nonsustained ventricular tachycardia, and pacemaker implantation..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 869 | m.869C\>T | C869T\-F1 | India | Hypertrophic cardiomyopathy with mid\-left ventricular cavity obstruction and arrhythmia | ND | ND | 2006 | [16266762](https://pubmed.ncbi.nlm.nih.gov/16266762/) |  |

# **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 | 869 | m.869C\>T | C869T\-F1 | C869T\-F1\-P1 | Uninf | M | Y | Y | A | 65 | / | / | / | / | Hypertrophic cardiomyopathy; mid\-ventricular obstruction; AV block; nonsustained ventricular tachycardia; pacemaker implantation. |  |

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