T12477C

# **General Information**

| **Position** | **12477** | **Variant** | **m.12477T\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **S47S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **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.12477T\>C** variant in MT\-ND5 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, mid left ventricular cavity obstruction, atypical chest discomfort, dizziness, nonsustained VT, and pacemaker.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12477 | m.12477T\>C | T12477C\-F1 | India | Hypertrophic cardiomyopathy | 0 | 0 | 2006 | [16266762](https://pubmed.ncbi.nlm.nih.gov/16266762/) | Carrying C869T, T1391C, C1556T, G3407A, T11365C |

# **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 | 12477 | m.12477T\>C | T12477C\-F1 | T12477C\-F1\-P1 | Uninf | M | Y | Y | A | 65 years | / | / | / | Positive(ND) | Mid left ventricular cavity obstruction, atypical chest discomfort/dizziness, AV block, nonsustained VT, pacemaker | Carrying C869T, T1391C, C1556T, G3407A, T11365C; prescribed amiodarone |

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