A608G

# **General Information**

| **Position** | **608** | **Variant** | **m.608A\>G** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 65\.00% | **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.608A\>G** variant in MT\-TF has been reported in 1 pedigree. To date, 4 carriers have been reported. Homoplasmy was reported in 3/4 carriers (75%), and 2/4 carriers (50%) were affected. The main clinical manifestations among affected carriers included chronic renal insufficiency, ataxia, developmental delay, muscle weakness, and tubulointerstitial nephritis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 608 | m.608A\>G | [A608G\-F1](https://mitofam.com/doc/966/) | Taiwan, China | Tubulointerstitial nephritis | 2 | 1 | 2001 | 11231339 |  |

# **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 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-II1 | Fam | F | N | N | D | 7 months | / | / | / | / | Died of herpetic encephalitis |  |
| 3 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-II2 | Fam | M | Y | Y | A | 46 months | Homo | / | / | Homo (renal biopsy tissue) | Chronic renal insufficiency, developmental delay |  |
| 4 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-II3 | Fam | M | N | Y | A | 27 months | Homo | / | / | Homo (renal biopsy tissue) | Chronic renal insufficiency, tubulointerstitial nephritis, muscle weakness, ataxia |  |

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