T12631A

# **General Information**

| **Position** | **12631** | **Variant** | **m.12631T\>A** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **S99T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | VUS\+ | **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.12631T\>A** variant in MT\-ND5 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included sporadic Creutzfeldt\-Jakob disease.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12631 | m.12631T\>A | T12631A\-F1 | China | Sporadic Creutzfeldt\-Jakob disease | 0 | 0 | 2014 | [24667788](https://pubmed.ncbi.nlm.nih.gov/24667788/) | sCJD is not a classical mitochondrial disease phenotype; still original non\-cancer patient allele evidence.; sCJD cases 9 and 11; Case variant table and methods statement that variants were homoplasmic.; China; Chinese sCJD case\-control cohort; Split PMID 24667788 Cases 9 and 11 into separate singleton families; table reports homoplasmic T12631A. |
| 2 | 12631 | m.12631T\>A | T12631A\-F2 | China | Sporadic Creutzfeldt\-Jakob disease | 0 | 0 | 2014 | [24667788](https://pubmed.ncbi.nlm.nih.gov/24667788/) | sCJD is not a classical mitochondrial disease phenotype; still original non\-cancer patient allele evidence.; sCJD cases 9 and 11; Case variant table and methods statement that variants were homoplasmic.; China; Chinese sCJD case\-control cohort; Split PMID 24667788 Cases 9 and 11 into separate singleton families; table reports homoplasmic T12631A. |

# **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 | 12631 | m.12631T\>A | T12631A\-F1 | T12631A\-F1\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Sporadic Creutzfeldt\-Jakob disease | m.12631T\>A/p.S99T reported.; Variant table.; Source: Case 9 |
| 2 | 12631 | m.12631T\>A | T12631A\-F2 | T12631A\-F2\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Sporadic Creutzfeldt\-Jakob disease | m.12631T\>A/p.S99T reported.; Variant table.; Source: Case 11 |

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