A14596T

# **General Information**

| **Position** | **14596** | **Variant** | **m.14596A\>T** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **I26M** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.14596A\>T** variant in MT\-ND6 has been reported in 1 pedigree. To date, 14 carriers have been reported. Homoplasmy was reported in 14/14 carriers (100%), and 10/14 carriers (71\.4%) were affected. The main clinical manifestations among affected carriers included phenotype not individually mapped from available text, lHON and bilateral neurological disease, lHON and dystonia, and died in nursing home.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14596 | m.14596A\>T | [A14596T\-F1](https://mitofam.com/doc/2092/) | Netherlands | LHON and hereditary spastic dystonia | 4 | 8\_or\_9 | 1996 | [8644732](https://pubmed.ncbi.nlm.nih.gov/8644732/) |  |

# **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 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-V3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label V\-21 |
| 2 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-V4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label V\-22 |
| 3 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI1 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-2 |
| 4 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI2 | Fam | F | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-5 |
| 5 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI3 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON and dystonia | Original label VI\-12 |
| 6 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI5 | Fam | M | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-30 |
| 7 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI6 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-31 |
| 8 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI8 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-33 |
| 9 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI9 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-55 |
| 10 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI10 | Fam | F | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-57 |
| 11 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VII1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VII\-26 |
| 12 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VII2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VII\-54 |
| 13 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VII3 | Fam | M | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VII\-55 |
| 14 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI7 | Fam | M | N | Y | D | 59y | / | / | / | Homo (F); Homo (brain) | LHON and bilateral neurological disease; died in nursing home | Original label VI\-32 |

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