A9155T

# **General Information**

| **Position** | **9155** | **Variant** | **m.9155A\>T** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **Q210L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.9155A\>T** 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 low plasma citrulline, alive at 23 years with intellectual disability., and developmental delay from early childhood in all domains.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9155 | m.9155A\>T | A9155T\-F1 | USA | Developmental delay; intellectual disability; low citrulline / ATP6/8 deficiency | 0 | 0 | 2018 | [29307858](https://pubmed.ncbi.nlm.nih.gov/29307858/) |  |

# **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 | 9155 | m.9155A\>T | A9155T\-F1 | A9155T\-F1\-P1 | Fam | M | Y | Y | A | 23 y | Homo | / | / | / | Low plasma citrulline; developmental delay from early childhood in all domains; alive at 23 years with intellectual disability. | Co\-occurring m.8959G\>A homoplasmic |

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