A1630G

# **General Information**

| **Position** | **1630** | **Variant** | **m.1630A\>G** | **Locus** | **MT\-TV** | **RNA** | **tRNA Val** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[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.1630A\>G** variant in MT\-TV has been reported in 3 pedigrees. To date, 6 carriers have been reported. Reported mutation loads ranged from 60% to 98%, with a median of 90% overall; affected carriers showed mutation loads from 60% to 95%, with a median of 80%; unaffected carriers showed mutation loads from 60% to 98%, with a median of 93\.9%. The main clinical manifestations among affected carriers included MELAS, mNGIE\-like gastrointestinal dysmotility, cachexia, psychomotor delay, sensorineural hearing loss, and visual impairment.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1630 | m.1630A\>G | [A1630G\-F1](https://mitofam.com/doc/843/) | Germany | MNGIE\-like gastrointestinal dysmotility and cachexia | 1 | 0 | 2009 | [19252805](https://pubmed.ncbi.nlm.nih.gov/19252805/) |  |
| 2 | 1630 | m.1630A\>G |[ A1630G\-F2](https://mitofam.com/doc/844/) | USA | MELAS | 1 | 0 | 2011 | [21540128](https://pubmed.ncbi.nlm.nih.gov/21540128/) |  |
| 3 | 1630 | m.1630A\>G |[ A1630G\-F3](https://mitofam.com/doc/845/) | USA | MELAS | 1 | 0 | 2019 | [30709774](https://pubmed.ncbi.nlm.nih.gov/30709774/) |  |

# **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 | 1630 | m.1630A\>G | A1630G\-F1 | A1630G\-F1\-II1 | Fam | F | Y | Y | A | 16 | 70% | \>90% | / | 80%(Myoblasts) | MNGIE\-like gastrointestinal dysmotility, cachexia, sensorineural hearing loss, visual impairment, psychomotor delay |  |
| 2 | 1630 | m.1630A\>G | A1630G\-F1 | A1630G\-F1\-I2 | Fam | F | N | N | A | ND | 60% | / | / | / | Healthy |  |
| 3 | 1630 | m.1630A\>G | A1630G\-F2 | A1630G\-F2\-II1 | Fam | F | Y | Y | A | 15 | 75% | / | 95% | 60%(F) | MELAS |  |
| 4 | 1630 | m.1630A\>G | A1630G\-F2 | A1630G\-F2\-I2 | Fam | F | N | N | A | ND | 93% | / | 98% | / | Healthy |  |
| 5 | 1630 | m.1630A\>G | A1630G\-F3 | A1630G\-F3\-II1 | Fam | F | Y | Y | A | 24 | 75% | / | 95% | 89\.63%(F) | MELAS |  |
| 6 | 1630 | m.1630A\>G | A1630G\-F3 | A1630G\-F3\-I2 | Fam | F | N | N | A | 55 | 93% | / | 98% | 94\.78%(F) | Healthy |  |

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