A15923G

# General Information

| **Position** | **15923** | **Variant** | **m.15923A\>G** | **Locus** | **MT\-TT** | **RNA** | **tRNA Thr** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.15923A\>G** variant in MT\-TT has been reported in 2 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 78%, with a median of 22% overall; affected carriers showed mutation loads from 0% to 78%, with a median of 18%; unaffected carriers showed mutation loads from 26%, with a median of 26%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (78%) and urine (26%) than in blood (10%). In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (33%). The main clinical manifestations among affected carriers included adult\-onset ptosis, MERRF, diplopia, exercise intolerance, and mild myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15923 | m.15923A\>G | [A15923G\-F1](https://mitofam.com/doc/829/) | Spain | MERRF, exercise intolerance, abdominal pain, vomiting, seizures | 1 | 0 | 2015 | [25765153](https://pubmed.ncbi.nlm.nih.gov/25765153/), [22638997](https://pubmed.ncbi.nlm.nih.gov/22638997/) |  |
| 2 | 15923 | m.15923A\>G | A15923G\-F2 | Finland | Adult\-onset ptosis, diplopia, exercise intolerance, mild myopathy | ND | ND | 2018 | [30236074](https://pubmed.ncbi.nlm.nih.gov/30236074/) |  |

# 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 | 15923 | m.15923A\>G | A15923G\-F1 | A15923G\-F1\-I2 | Uninf | F | N | N | A | ND | / | / | 26% | / | Healthy |  |
| 2 | 15923 | m.15923A\>G | A15923G\-F1 | A15923G\-F1\-II1 | Fam | F | Y | Y | A | 13 | 10% | 78% | 26% | 18%(BM) | MERRF |  |
| 3 | 15923 | m.15923A\>G | A15923G\-F2 | A15923G\-F2\-II8 | Uninf | M | Y | Y | A | 54 | 0 | 33% | / | 2% (BM) | Adult\-onset ptosis, diplopia, exercise intolerance, mild myopathy |  |

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