A13084T

# **General Information**

| **Position** | **13084** | **Variant** | **m.13084A\>T** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **S250C** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported \[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.13084A\>T** variant in MT\-ND5 has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 13% to 88%, with a median of 67% overall; affected carriers showed mutation loads from 13% to 88%, with a median of 67%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (41%) than in fibroblasts (13%). The main clinical manifestations among affected carriers included leigh\-MELAS overlap, migraine and bilateral optic disc atrophy., normal milestones but brisk reflexes, RBBB, abnormal plantar responses and EEG slow waves., hyperkinesia., optic atrophy, seizures, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13084 | m.13084A\>T | [A13084T\-F1 ](https://mitofam.com/doc/1310/)| Italy | Leigh\-MELAS overlap syndrome | 1 | 1 | 2003 | [12796552](https://pubmed.ncbi.nlm.nih.gov/12796552/) |  |

# **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 | 13084 | m.13084A\>T | A13084T\-F1 | A13084T\-F1\-II1 | Fam | M | Y | Y | A | 16 years | 82% | 85% | 67% | 88%(BM); 72%(F) | Leigh\-MELAS overlap, optic atrophy, seizures, stroke\-like episodes, RBBB, hyperkinesia. | Carbamazepine for seizures |
| 2 | 13084 | m.13084A\>T | A13084T\-F1 | A13084T\-F1\-I2 | Fam | F | N | Y | A | 38 years | 57% | / | / | 48%(F) | Migraine and bilateral optic disc atrophy. |  |
| 3 | 13084 | m.13084A\>T | A13084T\-F1 | A13084T\-F1\-II2 | Fam | F | N | Y | A | 6 years | 41% | / | / | 13%(F) | Normal milestones but brisk reflexes, abnormal plantar responses and EEG slow waves. |  |

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