A13045G

# **General Information**

| **Position** | **13045** | **Variant** | **m.13045A\>G** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **M237V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.13045A\>G** variant in MT\-ND5 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 84%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 84%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (50%). In one affected carrier, the mutation was undetectable in blood (0%), hair (0%), and bone marrow (0%) but exceeded 20% in muscle (84%). The main clinical manifestations among affected carriers included MELAS and onset about 54 years.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13045 | m.13045A\>G | [A13045G\-F1](https://mitofam.com/doc/1308/) | Spain | MELAS | 0 | 1 | 2020 | [31639449](https://pubmed.ncbi.nlm.nih.gov/31639449/) | Variant detected in targeted tissues; blood can be negative.; Mother\-daughter family; Case report, pedigree, and tissue heteroplasmy table.; Spain; Spanish mother\-daughter family; Corrected old erroneous G13590A entry to A13045G based on PMID 31639449 full text. |

# **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 | 13045 | m.13045A\>G | A13045G\-F1 | A13045G\-F1\-I2 | Uninf | F | N | Y | A | 66 | 0% | 50% | / | / | MELAS; onset about 54 years | Patient 1; onset around 54 |
| 2 | 13045 | m.13045A\>G | A13045G\-F1 | A13045G\-F1\-II1 | Fam | F | Y | Y | A | 41 | 0% | 84% | 5% | 0%(H); 0%(BM) | MELAS | Patient 2 |

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