T616C

# **General Information**

| **Position** | **616** | **Variant** | **m.616T\>C** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.616T\>C** variant in MT\-TF has been reported in 7 pedigrees. To date, 21 carriers have been reported. Homoplasmy was reported in 7/21 carriers (33\.3%), and 16/21 carriers (76\.2%) were affected. The main clinical manifestations among affected carriers included CKD, renal insufficiency, tubulopathy, abdominal pain and vomiting, CKD (G2\), cKD (G3\) and hyperuricemia, chronic renal insufficiency and epilepsia, epilepsy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 616 | m.616T\>C | T616C\-F1 | Germany | Epilepsy, chronic renal insufficiency | 10 | 1 | [20142618](https://pubmed.ncbi.nlm.nih.gov/20142618/) | 2010 |  |
| 2 | 616 | m.616T\>C | T616C\-F2 | Australia | CKD, MITKD | 2 | 16 | [28267784](https://pubmed.ncbi.nlm.nih.gov/28267784/) | 2017 |  |
| 3 | 616 | m.616T\>C | T616C\-F3 | Germany | MITKD, Encephalopathia | 1 | 0 | [31722346](https://pubmed.ncbi.nlm.nih.gov/31722346/) | 2019 |  |
| 4 | 616 | m.616T\>C | T616C\-F4 | The Netherlands | Gitelman\-Like Syndrome | 2 | 7 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) | 2022 |  |
| 5 | 616 | m.616T\>C | T616C\-F5 | China | Isolated chronic kidney disease and hyperuricemia | 7 | 23 | [35472031](https://pubmed.ncbi.nlm.nih.gov/35472031/) | 2022 |  |
| 6 | 616 | m.616T\>C | T616C\-F6 | China | Isolated chronic kidney disease and hyperuricemia | 4 | 0 | [35472031](https://pubmed.ncbi.nlm.nih.gov/35472031/) | 2022 |  |
| 7 | 616 | m.616T\>C | T616C\-F7 | China | Isolated chronic kidney disease and hyperuricemia | 4 | 1 | [35472031](https://pubmed.ncbi.nlm.nih.gov/35472031/) | 2022 |  |

# **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 | 616 | m.616T\>C | T616C\-F1 | T616C\-F1\-IV1 | Fam | F | Y | Y | D | 17 | Homo | Homo | ND | leukocyte (traces of wild\-type allele) | Epilepsy, chronic renal insufficiency |  |
| 2 | 616 | m.616T\>C | T616C\-F2 | T616C\-F2\-III10 | Fam | F | Y | Y | / | / | Homo | ND | Homo | ND | CKD |  |
| 3 | 616 | m.616T\>C | T616C\-F3 | T616C\-F3\-I1 | Uninf | F | N | N | A | / | 91% | ND | 82% | buccal swab 86% | / |  |
| 4 | 616 | m.616T\>C | T616C\-F3 | T616C\-F3\-P1 | Fam | F | Y | Y | A | 5 | Homo | ND | Homo | fibroblast 100% | Chronic renal insufficiency and epilepsia, developmental delay |  |
| 5 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-I2 | Uninf | F | N | Y | D | / | 98% | ND | ND | ND | CKD |  |
| 6 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II2 | Fam | F | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 7 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II3 | Fam | M | N | Y | A | 27 | 98% | ND | ND | ND | CKD, Tubulopathy |  |
| 8 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II4 | Fam | M | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 9 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II5 | Fam | F | N | N | D | / | 98% | ND | ND | ND | / |  |
| 10 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II7 | Fam | F | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 11 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II8 | Fam | F | N | N | D | / | 98% | ND | ND | ND | / |  |
| 12 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-III1 | Fam | M | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 13 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-III2 | Fam | M | N | Y | A | 21 | 98% | ND | ND | ND | CKD, Tubulopathy |  |
| 14 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-III3 | Fam | M | Y | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 15 | 616 | m.616T\>C | T616C\-F5 | T616C\-F5\-IV1 | Fam | F | Y | Y | A | 7 | Homo | ND | Homo | Skin Homo | Renal insufficiency, recurrent swelling and pain in the hands and feet |  |
| 16 | 616 | m.616T\>C | T616C\-F5 | T616C\-F5\-III2 | Uninf | F | N | Y | A | 30 | Homo | ND | ND | ND | Renal insufficiency |  |
| 17 | 616 | m.616T\>C | T616C\-F6 | T616C\-F6\-III1 | Fam | M | Y | Y | A | 8 | Homo | ND | ND | ND | Abdominal pain and vomiting |  |
| 18 | 616 | m.616T\>C | T616C\-F6 | T616C\-F6\-II2 | Fam | F | N | N | A | 35 | 68\.21% | ND | ND | PBL 68\.21% | Nephrolithiasis |  |
| 19 | 616 | m.616T\>C | T616C\-F7 | T616C\-F7\-II2 | Fam | F | N | Y | A | 38 | 76\.27% | ND | 94\.5% | PBL 76\.27% saliva 89\.85% | CKD (G2\) |  |
| 20 | 616 | m.616T\>C | T616C\-F7 | T616C\-F7\-III1 | Fam | M | Y | Y | A | 13 | Homo | ND | Homo | ND | CKD (G3\) and hyperuricemia |  |
| 21 | 616 | m.616T\>C | T616C\-F7 | T616C\-F7\-III2 | Fam | F | N | N | A | 8 | 55\.17% | ND | 87\.26% | PBL 55\.17% saliva 77\.25% | / |  |

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