A1517C

# **General Information**

| **Position** | **1517** | **Variant** | **m.1517A\>C** | **Locus** | **MT\-RNR1** | **RNA** | **12S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | N/A | **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.1517A\>C** variant in MT\-RNR1 has been reported in 4 pedigrees. To date, 4 carriers have been reported. Reported mutation loads ranged from 24\.5% to 46\.1%, with a median of 29\.5% overall; affected carriers showed mutation loads from 24\.5% to 46\.1%, with a median of 29\.5%. The main clinical manifestations among affected carriers included nonsyndromic hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1517 | m.1517A\>C | A1517C\-F1 | Tunisia | Nonsyndromic hearing loss | ND | ND | 2008 | [18325329](https://pubmed.ncbi.nlm.nih.gov/18325329/) |  |
| 2 | 1517 | m.1517A\>C | A1517C\-F2 | Tunisia | Nonsyndromic hearing loss | ND | ND | 2008 | [18325329](https://pubmed.ncbi.nlm.nih.gov/18325329/) |  |
| 3 | 1517 | m.1517A\>C | A1517C\-F3 | Tunisia | Nonsyndromic hearing loss | ND | ND | 2008 | [18325329](https://pubmed.ncbi.nlm.nih.gov/18325329/) |  |
| 4 | 1517 | m.1517A\>C | A1517C\-F4 | Tunisia | Nonsyndromic hearing loss | ND | ND | 2008 | [18325329](https://pubmed.ncbi.nlm.nih.gov/18325329/) |  |

# **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 | 1517 | m.1517A\>C | A1517C\-F1 | A1517C\-F1\-P1 | Fam | ND | ND | Y | ND | ND | 29\.4% | / | / | / | Nonsyndromic hearing loss | Original carrier ID: Patient\-1 |
| 2 | 1517 | m.1517A\>C | A1517C\-F2 | A1517C\-F2\-P1 | Fam | ND | ND | Y | ND | ND | 46\.1% | / | / | / | Nonsyndromic hearing loss | Original carrier ID: Patient\-6 |
| 3 | 1517 | m.1517A\>C | A1517C\-F3 | A1517C\-F3\-P1 | Fam | ND | ND | Y | ND | ND | 29\.7% | / | / | / | Nonsyndromic hearing loss | Original carrier ID: Patient\-7 |
| 4 | 1517 | m.1517A\>C | A1517C\-F4 | A1517C\-F4\-P1 | Fam | ND | ND | Y | ND | ND | 24\.5% | / | / | / | Nonsyndromic hearing loss | Original carrier ID: Patient\-8 |

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