A7445C

# General Information

| **Position** | **7445** | **Variant** | **m.7445A\>C** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **Term514S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **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.7445A\>C** variant in MT\-CO1 has been reported in 4 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included 30 dB, mild hearing loss, mild sensorineural hearing loss, PTA 28, profound bilateral sensorineural hearing loss, and sensorineural hearing loss after illness at age 1\-4\.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7445 | m.7445A\>C | A7445C\-F4 | Chinese | Hearing loss | ND | ND | 2020 | [32169613](https://pubmed.ncbi.nlm.nih.gov/32169613/) | SX115 |
| 2 | 7445 | m.7445A\>C | A7445C\-F1 | China | Nonsyndromic sensorineural hearing loss | ND | ND | 2008 | [18639500](https://pubmed.ncbi.nlm.nih.gov/18639500/) | BJ304 |
| 3 | 7445 | m.7445A\>C | A7445C\-F2 | China | Nonsyndromic sensorineural hearing loss | ND | ND | 2008 | [18639500](https://pubmed.ncbi.nlm.nih.gov/18639500/) | WZ210 |
| 4 | 7445 | m.7445A\>C | A7445C\-F3 | Mongolia | Sensorineural hearing loss | 6 | 24 | 1999 | [10577941](https://pubmed.ncbi.nlm.nih.gov/10577941/) |  |

# 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 | 7445 | m.7445A\>C | A7445C\-F4 | A7445C\-F4\-P1 | Fam | M | Y | Y | A | 10y onset | Homo | / | / | / | Mild hearing loss; PTA 28/30 dB | Aminoglycoside exposure\=No |
| 2 | 7445 | m.7445A\>C | A7445C\-F1 | A7445C\-F1\-III4 | Uninf | M | Y | Y | A | 19 | Homo | / | / | / | Profound bilateral sensorineural hearing loss |  |
| 3 | 7445 | m.7445A\>C | A7445C\-F2 | A7445C\-F2\-IV2 | Uninf | M | Y | Y | A | 10 | Homo | / | / | / | Mild sensorineural hearing loss | 22/30 dB; no aminoglycoside exposure |
| 4 | 7445 | m.7445A\>C | A7445C\-F3 | A7445C\-F3\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | Sensorineural hearing loss after illness at age 1\-4 |  |

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