G12814T

# **General Information**

| **Position** | **12814** | **Variant** | **m.12814G\>T** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **A160S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **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.12814G\>T** variant in MT\-ND5 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 95\.3%, with a median of 95\.3% overall; affected carriers showed mutation loads from 95\.3%, with a median of 95\.3%. The main clinical manifestations among affected carriers included bilateral progressive vision loss, cecocentral scotomas, comorbid diabetes, and peripheral neuropathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12814 | m.12814G\>T | G12814T\-F1 | Canada | LHON | 0 | 0 | 2024 | [38741249](https://pubmed.ncbi.nlm.nih.gov/38741249/) | Patient 1; Case 1\.; Canada; Toronto clinical context. |

# **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 | 12814 | m.12814G\>T | G12814T\-F1 | G12814T\-F1\-P1 | Uninf | F | Y | Y | A | 71 y | / | / | / | 95\.3%(ND) | Bilateral progressive vision loss, cecocentral scotomas; comorbid diabetes/peripheral neuropathy | Case 1 and sequencing results.; Source: Patient 1 |

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

# **General Information**

| **Position** | **12848** | **Variant** | **m.12848C\>T** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **A171V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.12848C\>T** variant in MT\-ND5 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 37% to 54%, with a median of 45\.5% overall; affected carriers showed mutation loads from 54%, with a median of 54%; unaffected carriers showed mutation loads from 37%, with a median of 37%. The main clinical manifestations among affected carriers included central scotomas, classic LHON, optic atrophy, and sequential bilateral visual loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12848 | m.12848C\>T | C12848T\-F1 | United States | LHON | 3 | 0 | 2005 | [16240359](https://pubmed.ncbi.nlm.nih.gov/16240359/) |  |

# **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 | 12848 | m.12848C\>T | C12848T\-F1 | C12848T\-F1\-II1 | Fam | M | Y | Y | A | 20 | 54%(lymphoblasts) | / | / | / | classic LHON; sequential bilateral visual loss; central scotomas; optic atrophy |  |
| 2 | 12848 | m.12848C\>T | C12848T\-F1 | C12848T\-F1\-I2 | Fam | F | N | N | A | early 50s | 37%(leukocytes) | / | / | / | Healthy |  |
| 3 | 12848 | m.12848C\>T | C12848T\-F1 | C12848T\-F1\-II2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 12848 | m.12848C\>T | C12848T\-F1 | C12848T\-F1\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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