T4291C

# General Information

| **Position** | **4291** | **Variant** | **m.4291T\>C** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 31\.80% | **Pathogenicity** | Reported \[VUS] |

"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.4291T\>C** variant in MT\-TI has been reported in 4 pedigrees. To date, 10 carriers have been reported. Homoplasmy was reported in 9/10 carriers (90%), and 8/10 carriers (80%) were affected. The main clinical manifestations among affected carriers included gitelman\-Like Syndrome and primary hyperparathyroidism.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4291 | m.4291T\>C | [T4291C\-F1](https://mitofam.com/doc/648/) | Netherlands | Gitelman\-Like Syndrome | 5 | 5 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |
| 2 | 4291 | m.4291T\>C | [T4291C\-F2 ](https://mitofam.com/doc/649/)| Netherlands | Gitelman\-Like Syndrome | 0 | 2 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |
| 3 | 4291 | m.4291T\>C | T4291C\-F3 | Netherlands | Gitelman\-Like Syndrome | NA | NA | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |
| 4 | 4291 | m.4291T\>C | T4291C\-F4 | Netherlands | Gitelman\-Like Syndrome | 3 | 1 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |

# 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 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III6 | Fam | F | Y | Y | A | 39 | 100% | / | / | / | Gitelman\-Like Syndrome |  |
| 2 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III2 | Fam | F | N | Y | A | ND | 99% | / | / | / | Gitelman\-Like Syndrome, Primary hyperparathyroidism |  |
| 3 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-IV5 | Fam | M | N | Y | A | 34 | 97% | / | / | / | Gitelman\-Like Syndrome |  |
| 4 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III3 | Fam | F | N | N | A | ND | 97% | / | / | / | Healthy |  |
| 5 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-III7 | Fam | F | N | N | A | ND | 97% | / | / | / | Healthy |  |
| 6 | 4291 | m.4291T\>C | T4291C\-F1 | T4291C\-F1\-IV4 | Fam | M | N | Y | A | 36 | / | / | / | / | Gitelman\-Like Syndrome |  |
| 7 | 4291 | m.4291T\>C | T4291C\-F2 | T4291C\-F2\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | Homo(F) | Gitelman\-Like Syndrome |  |
| 8 | 4291 | m.4291T\>C | T4291C\-F2 | T4291C\-F2\-II1 | Fam | F | Y | Y | A | 15 | Homo | / | / | Homo(F) | Gitelman\-Like Syndrome |  |
| 9 | 4291 | m.4291T\>C | T4291C\-F3 | T4291C\-F3\-II1 | Uninf | M | Y | Y | A | ND | Homo | / | / | Homo(F) | Gitelman\-Like Syndrome |  |
| 10 | 4291 | m.4291T\>C | T4291C\-F4 | T4291C\-F4\-III3 | Fam | M | Y | Y | A | ND | Homo | / | / | Homo(F) | Gitelman\-Like Syndrome |  |

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