A5670G

# **General Information**

| **Position** | **5670** | **Variant** | **m.5670A\>G** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 23\.10% | **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.5670A\>G** variant in MT\-TN has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 20% to 91%, with a median of 52% overall; affected carriers showed mutation loads from 52% to 91%, with a median of 88%; unaffected carriers showed mutation loads from 20% to 30%, with a median of 25%. The main clinical manifestations among affected carriers included myopathy and nAD\+ deficiency.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5670 | m.5670A\>G |[ A5670G\-F1 ](https://mitofam.com/doc/674/)| Finland | Myopathy, NAD\+ deficiency | 2 | 0 | 2024 | [39173541](https://pubmed.ncbi.nlm.nih.gov/39173541/) |  |

# **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 | 5670 | m.5670A\>G | A5670G\-F1 | A5670G\-F1\-I2 | Uninf | F | N | N | A | ND | 20% | / | 30% | / | Healthy |  |
| 2 | 5670 | m.5670A\>G | A5670G\-F1 | A5670G\-F1\-II1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 5670 | m.5670A\>G | A5670G\-F1 | A5670G\-F1\-II2 | Fam | M | Y | Y | D | 4 | 52% | 88% | 91% | / | Myopathy, NAD\+ deficiency |  |

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