T9098C

# **General Information**

| **Position** | **9098** | **Variant** | **m.9098T\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **I191T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.9098T\>C** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included severe mitochondrial disease, congenital cataracts, developmental and growth delay, hypotonia, lactic acidosis, and pancreatitis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9098 | m.9098T\>C | T9098C\-F1 | USA | Severe mitochondrial disease after in utero antiretroviral prophylaxis | 0 | 0 | 2009 | [19947808](https://pubmed.ncbi.nlm.nih.gov/19947808/) |  |

# **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 | 9098 | m.9098T\>C | T9098C\-F1 | T9098C\-F1\-P1 | Uninf | F | Y | Y | A | 4 | Homo | / | / | / | Severe mitochondrial disease; developmental and growth delay; hypotonia; lactic acidosis; congenital cataracts; pancreatitis |  |

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