T12811C

# **General Information**

| **Position** | **12811** | **Variant** | **m.12811T\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **Y159H** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **Pathogenicity** | Reported \[B] |

"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.12811T\>C** variant in MT\-ND5 has been reported in 4 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 3/4 carriers (75%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included LHON, painless progressive bilateral visual impairment, rNFL thinning, bilateral progressive painless blurred vision, central scotoma, centrocaecal scotoma, good visual recovery, and sporadic.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12811 | m.12811T\>C | T12811C\-F1 | China | LHON with m.11778G\>A background | 0 | 0 | 2008 | [19022198](https://pubmed.ncbi.nlm.nih.gov/19022198/) | m.12811T\>C is discussed as a mitochondrial variant/modifier with primary m.11778G\>A LHON mutation.; WZ31 family; Family WZ31 clinical and molecular description.; Chinese Han family WZ31 |
| 2 | 12811 | m.12811T\>C | T12811C\-F2 | China | LHON with m.3635G\>A | 0 | 0 | 2012 | [23304069](https://pubmed.ncbi.nlm.nih.gov/23304069/) | target variants are secondary/modifier context with primary m.3635G\>A.; Le329 and Le337; pages 1\-3; Chinese LHON patients recruited in Guangzhou; Han Chinese context; Split PMID 23304069 Le329 and Le337 into separate singleton families; one family is not proven. |
| 3 | 12811 | m.12811T\>C | T12811C\-F3 | China | LHON with m.3635G\>A | 0 | 0 | 2012 | [23304069](https://pubmed.ncbi.nlm.nih.gov/23304069/) | target variants are secondary/modifier context with primary m.3635G\>A.; Le329 and Le337; pages 1\-3; Chinese LHON patients recruited in Guangzhou; Han Chinese context; Split PMID 23304069 Le329 and Le337 into separate singleton families; one family is not proven. |
| 4 | 12811 | m.12811T\>C | T12811C\-F4 | Japan | LHON | 0 | 0 | 2021 | [33493461](https://pubmed.ncbi.nlm.nih.gov/33493461/) | environmental triggers noted but not part of carrier fields.; m.12811T\>C LHON case; pages 1\-3; Japanese ophthalmology case report |

# **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 | 12811 | m.12811T\>C | T12811C\-F1 | T12811C\-F1\-P1 | Uninf | M | Y | Y | A | 28 | Homo | / | / | / | Painless progressive bilateral visual impairment; centrocaecal scotoma; LHON | Age 28 at evaluation; visual impairment began at age 8\.; Clinical description of proband IV\-7 and complete mtDNA sequence table.; Source: IV\-7 |
| 2 | 12811 | m.12811T\>C | T12811C\-F2 | T12811C\-F2\-P1 | Fam | M | Y | Y | ND | 15 onset | Homo/not quantified | / | / | / | LHON | target variants co\-segregate with mtDNA sequence carrying primary m.3635G\>A; load not quantified; page 2 and Table 1; Source: Le329; Family history reported. |
| 3 | 12811 | m.12811T\>C | T12811C\-F3 | T12811C\-F3\-P1 | Uninf | M | Y | Y | ND | 33 onset | Homo/not quantified | / | / | / | LHON; sporadic | same mtDNA genome sequence as Le329; target variants considered polymorphisms/secondary modifiers; page 2 and Table 1; Source: Le337 |
| 4 | 12811 | m.12811T\>C | T12811C\-F4 | T12811C\-F4\-P1 | Uninf | M | Y | Y | A | 53 | \<20% | / | / | / | bilateral progressive painless blurred vision; central scotoma; RNFL thinning; good visual recovery | no family history; heavy smoking/drinking and poor diet before onset; case report; Source: patient |

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