G7453A

# **General Information**

| **Position** | **7453** | **Variant** | **m.7453G\>A** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.7453G\>A** variant in MT\-TS1 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 1/2 carriers (50%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included fatal neonatal lactic acidosis and myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7453 | m.7453G\>A | G7453A\-F1 | Finland | Fatal neonatal lactic acidosis | 0 | 0 | 2012 | [22453297](https://pubmed.ncbi.nlm.nih.gov/22453297/) |  |
| 2 | 7453 | m.7453G\>A | G7453A\-F2 | China | Myopathy | 0 | 0 | 2021 | [33279600](https://pubmed.ncbi.nlm.nih.gov/33279600/) |  |

# **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 | 7453 | m.7453G\>A | G7453A\-F1 | G7453A\-F1\-II1 | De novo | M | Y | Y | D | \<1 | / | Homo | / | / | Fatal neonatal lactic acidosis |  |
| 2 | 7453 | m.7453G\>A | G7453A\-F2 | G7453A\-F2\-II1 | De novo | F | Y | Y | A | 15 | \>90% | \>90% | \>90% | \>90% (BM) | Myopathy |  |

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