G12183A

# **General Information**

| **Position** | **12183** | **Variant** | **m.12183G\>A** | **Locus** | **MT\-TH** | **RNA** | **tRNA His** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 70\.30% | **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.12183G\>A** variant in MT\-TH has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 12\.4% to 87\.2%, with a median of 29\.8% overall; affected carriers showed mutation loads from 12\.4% to 87\.2%, with a median of 29\.8%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (87\.2%) than in blood (21\.2%). The main clinical manifestations among affected carriers included pigmentary retinopathy, bilateral cataracts, blindness, hypoacusia, ataxia, bilateral hearing defects, cataracts, deafness, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12183 | m.12183G\>A | [G12183A\-F1 ](https://mitofam.com/doc/589/)| Italy | Pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, ataxia,audiometric defects,visual loss | 0 | 2 | 2003 | [12682337](https://pubmed.ncbi.nlm.nih.gov/12682337/) |  |

# **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 | 12183 | m.12183G\>A | G12183A\-F1 | G12183A\-F1\-I2 | De novo | F | N | Y | A | 56 | 12\.4% | / | / | / | Bilateral cataracts, temporal muscle hypotrophy, bilateral hearing defects, decreased scotopic ERG components |  |
| 2 | 12183 | m.12183G\>A | G12183A\-F1 | G12183A\-F1\-II1 | Fam | F | N | Y | A | 33 | 21\.2% | 87\.2% | / | / | Hypoacusia, pigmentary retinopathy, progressive visual loss |  |
| 3 | 12183 | m.12183G\>A | G12183A\-F1 | G12183A\-F1\-II2 | Fam | M | Y | Y | A | 30 | 38\.3% | / | / | / | Blindness, deafness, ataxia, pigmentary retinopathy, sensorineural hearing loss, muscle atrophy, hypogonadism, cataracts |  |

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