T7965C

# **General Information**

| **Position** | **7965** | **Variant** | **m.7965T\>C** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **F127S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | . | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-benign | **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.7965T\>C** variant in MT\-CO2 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 22%, with a median of 22% overall; affected carriers showed mutation loads from 22%, with a median of 22%. The main clinical manifestations among affected carriers included fetal hydrops, nPC1\-related Niemann\-Pick disease type C, acute liver failure, and pancytopenia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7965 | m.7965T\>C | [T7965C\-F1 ](https://mitofam.com/doc/1660/)| United States | Niemann\-Pick disease type C with fetal hydrops and acute liver failure; MT\-CO2 VUS not established causal | 3 | 0 | 2017 | [28802248](https://pubmed.ncbi.nlm.nih.gov/28802248/) |  |

# **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 | 7965 | m.7965T\>C | T7965C\-F1 | T7965C\-F1\-II3 | Fam | M | Y | Y | D | 0 | / | / | / | rWES/Sanger: approx 22% heteroplasmy; source tissue ND | Fetal hydrops; pancytopenia; acute liver failure; NPC1\-related Niemann\-Pick disease type C |  |
| 2 | 7965 | m.7965T\>C | T7965C\-F1 | T7965C\-F1\-I1 | Uninf | F | N | N | A | 47 | / | / | / | Sanger: lower than proband; exact percent ND | Unaffected mother with depression/chronic anemia due to alpha\-thalassemia trait; no mtDNA disease reported |  |
| 3 | 7965 | m.7965T\>C | T7965C\-F1 | T7965C\-F1\-II2 | Fam | M | N | N | A | 6 | / | / | / | / | Healthy older brother |  |
| 4 | 7965 | m.7965T\>C | T7965C\-F1 | T7965C\-F1\-II1 | Fam | M | N | N | A | 9 | / | / | / | / | Healthy older brother |  |

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