C12258A

# General Information

| **Position** | **12258** | **Variant** | **m.12258C\>A** | **Locus** | **MT\-TS2** | **RNA** | **tRNA Ser (AGY)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.12258C\>A** variant in MT\-TS2 has been reported in 2 pedigrees. To date, 32 carriers have been reported. Reported mutation loads ranged from 5% to 95%, with a median of 50% overall; affected carriers showed mutation loads from 5% to 95%, with a median of 50%; unaffected carriers showed mutation loads from 20% to 80%, with a median of 40%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (68\.4%) than in blood (19\.4%). The main clinical manifestations among affected carriers included retinitis pigmentosa, progressive sensorineural hearing loss, diabetes, cataracts, deafness, and cerebellar ataxia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12258 | m.12258C\>A | [C12258A\-F1](https://mitofam.com/doc/724/) | UK | Diabetes mellitus | ND | ND | 1998 | [9792552](https://pubmed.ncbi.nlm.nih.gov/9792552/) |  |
| 2 | 12258 | m.12258C\>A | [C12258A\-F2](https://mitofam.com/doc/725/) | Ireland | Retinitis pigmentosa, progressive sensorineural hearing loss | 8 | 23 | 1999 | [10090882](https://pubmed.ncbi.nlm.nih.gov/10090882/) |  |

# 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 | 12258 | m.12258C\>A | C12258A\-F1 | C12258A\-F1\-I2 | Uninf | F | Y | Y | A | 61 | 19\.4% | 68\.4% | / | / | Diabetes, cataracts, deafness, cerebellar ataxia |  |
| 2 | 12258 | m.12258C\>A | C12258A\-F1 | C12258A\-F1\-II1 | Fam | F | N | Y | A | 20 | 45% | 85% | / | / | Diabetes, cataracts, deafness |  |
| 3 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 4 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-II2 | Fam | F |  | Y | D | ND | / | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 5 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-III11 | Fam | M |  | Y | A | ND | 5% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 6 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-III13 | Fam | F |  | Y | D | ND | / | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 7 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV33 | Fam | F |  | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 8 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV34 | Fam | M |  | Y | A | ND | 30% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 9 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV35 | Fam | F |  | Y | A | ND | 40% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 10 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV37 | Fam | F |  | N | A | ND | 60% | / | / | / | Healthy |  |
| 11 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV39 | Fam | M |  | N | A | ND | 40% | / | / | / | Healthy |  |
| 12 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV44 | Fam | F |  | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 13 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV47 | Fam | F |  | Y | A | ND | 30% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 14 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV48 | Fam | F |  | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 15 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV52 | Fam | F |  | Y | A | ND | 10% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 16 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV54 | Fam | F |  | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 17 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV58 | Fam | F |  | Y | A | ND | 40% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 18 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV60 | Fam | M |  | Y | A | ND | 20% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 19 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV61 | Fam | M |  | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 20 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V1 | Fam | F |  | N | A | ND | 80% | / | / | / | Healthy |  |
| 21 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V6 | Fam | F |  | Y | A | ND | 95% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 22 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V7 | Fam | F |  | N | A | ND | 40% | / | / | / | Healthy |  |
| 23 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V16 | Fam | F |  | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 24 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V17 | Fam | M |  | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 25 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V18 | Fam | F |  | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 26 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V25 | Fam | F |  | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 27 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V26 | Fam | F |  | N | A | ND | 40% | / | / | / | Healthy |  |
| 28 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V28 | Fam | F |  | N | A | ND | 40% | / | / | / | Healthy |  |
| 29 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V14 | Fam | M |  | Y | A | ND | 60% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 30 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V22 | Fam | M |  | N | A | ND | 20% | / | / | / | Healthy |  |
| 31 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V23 | Fam | F |  | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 32 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V5 | Fam | F | N | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |

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