G15967A

# **General Information**

| **Position** | **15967** | **Variant** | **m.15967G\>A** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 78\.90% | **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.15967G\>A** variant in MT\-TP has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 69%, with a median of 10% overall; affected carriers showed mutation loads from 0% to 69%, with a median of 10%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (69%). The main clinical manifestations among affected carriers included MERRF and severe reading disorder.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15967 | m.15967G\>A | [G15967A\-F1 ](https://mitofam.com/doc/1233/)| UK | MERRF | 3 | 0 | 2009 | [19273760](https://pubmed.ncbi.nlm.nih.gov/19273760/) |  |

# **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 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-III2 | De novo | F | Y | Y | A | 49 | 0 | 69% | 10% | / | MERRF |  |
| 2 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-IV1 | Fam | F | N | N | A | ND | ND | ND | ND | ND | Healthy |  |
| 3 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-IV2 | Fam | F | N | N | A | ND | ND | ND | ND | ND | Healthy |  |
| 4 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-IV3 | Fam | F | N | Y | A | ND | ND | ND | ND | ND | Severe reading disorder |  |

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