T961G

# **General Information**

| **Position** | **961** | **Variant** | **m.961T\>G** | **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.961T\>G** variant in MT\-RNR1 has been reported in 4 pedigrees. To date, 5 carriers have been reported. Homoplasmy was reported in 5/5 carriers (100%), and 5/5 carriers (100%) were affected. The main clinical manifestations among affected carriers included moderate nonsyndromic hearing impairment, gJB2 35delG \+, \+., \-., congenital profound nonsyndromic hearing impairment, mild nonsyndromic hearing impairment, pTA \>100 dB both ears, pTA right 18\.3 dB, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 961 | m.961T\>G | T961G\-F1 | United States | Pediatric nonsyndromic sensorineural hearing loss | ND | ND | 2004 | [15286157](https://pubmed.ncbi.nlm.nih.gov/15286157/) |  |
| 2 | 961 | m.961T\>G | [T961G\-F2 ](https://mitofam.com/doc/1631/)| United States | Pediatric nonsyndromic sensorineural hearing loss | ND | 1 | 2004 | [15286157](https://pubmed.ncbi.nlm.nih.gov/15286157/) |  |
| 3 | 961 | m.961T\>G | T961G\-F3 | United States | Pediatric nonsyndromic sensorineural hearing loss | 17 | 6 | 2004 | [15286157](https://pubmed.ncbi.nlm.nih.gov/15286157/) |  |
| 4 | 961 | m.961T\>G | T961G\-F4 | United States | Pediatric nonsyndromic sensorineural hearing loss | ND | ND | 2004 | [15286157](https://pubmed.ncbi.nlm.nih.gov/15286157/) |  |

# **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 | 961 | m.961T\>G | T961G\-F1 | T961G\-F1\-P1 | Uninf | F | ND | Y | ND | ND | Homo | / | / | / | Congenital profound nonsyndromic hearing impairment; PTA \>100 dB both ears; GJB2 35delG \+/\+. | Original carrier ID: \#91 |
| 2 | 961 | m.961T\>G | T961G\-F2 | T961G\-F2\-II1 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Moderate nonsyndromic hearing impairment; PTA right 48\.3 dB, left 55 dB | Original carrier ID: \#221; onset age 6; sister |
| 3 | 961 | m.961T\>G | T961G\-F2 | T961G\-F2\-II2 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Moderate nonsyndromic hearing impairment; PTA right 46\.7 dB, left 48\.3 dB | Original carrier ID: \#222; onset age 6; sister |
| 4 | 961 | m.961T\>G | T961G\-F3 | T961G\-F3\-P1 | Fam | F | Y | Y | ND | ND | Homo | / | / | / | Moderate nonsyndromic hearing impairment; onset about 15 years; PTA right 41\.7 dB, left 31\.7 dB; GJB2 35delG \+/\-. | Original carrier ID: \#246 |
| 5 | 961 | m.961T\>G | T961G\-F4 | T961G\-F4\-P1 | Uninf | M | ND | Y | ND | ND | Homo | / | / | / | Mild nonsyndromic hearing impairment; onset age 6; PTA right 18\.3 dB, left 26\.7 dB. | Original carrier ID: \#256 |

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