C1310T

# **General Information**

| **Position** | **1310** | **Variant** | **m.1310C\>T** | **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.1310C\>T** variant in MT\-RNR1 has been reported in 3 pedigrees. To date, 3 carriers have been reported. Homoplasmy was reported in 3/3 carriers (100%), and 3/3 carriers (100%) were affected. The main clinical manifestations among affected carriers included PTA R, 92 dB, L 91, flat audiogram, profound hearing loss, 115 dB, L 95, and profound.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1310 | m.1310C\>T | C1310T\-F1 | China | five pedigrees with aminoglycoside\-induced and nonsyndromic hearing impairment | ND | ND | 2011 | [21205314](https://pubmed.ncbi.nlm.nih.gov/21205314/) | Family 21205314 |
| 2 | 1310 | m.1310C\>T | C1310T\-F2 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 3 | 1310 | m.1310C\>T | C1310T\-F3 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |

# **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 | 1310 | m.1310C\>T | C1310T\-F1 | C1310T\-F1\-IV1 | Fam | M | Y | Y | ND | 1 | Homo | / | / | / | PTA R/L 91/92 dB; profound | Original carrier ID: NS071\-IV\-1; flat; aminoglycoside: No |
| 2 | 1310 | m.1310C\>T | C1310T\-F2 | C1310T\-F2\-P1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | PTA R/L 95/92 dB; flat audiogram; profound hearing loss | Original carrier ID: TZ007; Aminoglycoside exposure reported; family history No |
| 3 | 1310 | m.1310C\>T | C1310T\-F3 | C1310T\-F3\-P1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | PTA R/L 91/115 dB; flat audiogram; profound hearing loss | Original carrier ID: TZ095; Aminoglycoside exposure reported; family history No |

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