T12148C

# **General Information**

| **Position** | **12148** | **Variant** | **m.12148T\>C** | **Locus** | **MT\-TH** | **RNA** | **tRNA His** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 74\.70% | **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.12148T\>C** variant in MT\-TH has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 94%, with a median of 22\.5% overall; affected carriers showed mutation loads from 1% to 94%, with a median of 35%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (5%) and urine (10%) than in fibroblasts (1%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (94%) than in blood (35%). The main clinical manifestations among affected carriers included cataracts, cognitive decline, hearing loss, ataxia, autonomic dysfunction, hypertension, myopathy, parkinsonian movement disorder, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12148 | m.12148T\>C |[ T12148C\-F1 ](https://mitofam.com/doc/593/)| USA | Cataracts, retinal dystrophy, hearing loss, myopathy, cognitive decline, parkinsonian movement disorder, ataxia, renal disease, hypertension, and autonomic dysfunction | 1 | 1 | 2023 | [37961166](https://pubmed.ncbi.nlm.nih.gov/37961166/) | Carrying T961C |

# **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 | 12148 | m.12148T\>C | T12148C\-F1 | T12148C\-F1\-II2 | De novo | F | N | Y | A | 58 | 5% | / | 10% | 1% (F) | Cataracts, hearing loss, cognitive decline | Carrying T961C |
| 2 | 12148 | m.12148T\>C | T12148C\-F1 | T12148C\-F1\-III1 | Fam | F | Y | Y | D | 28 | 35% | 94% | / | 56% (F), 68% (Renal epithelial cells) | Cataracts,retinal dystrophy,hearing loss,myopathy, cognitive decline,parkinsonian movement disorder,ataxia,renal disease,hypertension,autonomic dysfunction | Carrying T961C |
| 3 | 12148 | m.12148T\>C | T12148C\-F1 | T12148C\-F1\-III2 | Fam | F | N | N | A | 28 | 0 | / | / | / | Healthy | Carrying T961C |

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