C1624T

# **General Information**

| **Position** | **1624** | **Variant** | **m.1624C\>T** | **Locus** | **MT\-TV** | **RNA** | **tRNA Val** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.1624C\>T** variant in MT\-TV has been reported in 2 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 2/4 carriers (50%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included occasional migraine headaches, recurrent consciousness disturbance, severe cardiac failure, stroke\-like episodes, alexia, cognitive decline, delusions), disinhibition, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1624 | m.1624C\>T | [C1624T\-F1](https://mitofam.com/doc/850/) | UK | Multiple neonatal deaths, Leigh syndrome, severe cardiac failure; mother with occasional migraine headaches and very mild proximal muscle weakness | 0 | 10 | 2002 | [11799391](https://pubmed.ncbi.nlm.nih.gov/11799391/) |  |
| 2 | 1624 | m.1624C\>T |[ C1624T\-F2 ](https://mitofam.com/doc/851/)| Japan | Recurrent consciousness disturbance, cognitive decline, personality change, psychomotor agitation, disinhibition | 3 | 1 | 2012 | [23063709](https://pubmed.ncbi.nlm.nih.gov/23063709/) |  |

# **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 | 1624 | m.1624C\>T | C1624T\-F1 | C1624T\-F1\-II2 | Fam | F | Y | Y | A | 35 | Homo | Homo | / | / | Occasional migraine headaches, very mild proximal muscle weakness (clinically near\-normal) |  |
| 2 | 1624 | m.1624C\>T | C1624T\-F1 | C1624T\-F1\-III7 | Fam | F | N | Y | D | 21 hours | Homo | Homo | / | / | Severe cardiac failure, pleural effusions |  |
| 3 | 1624 | m.1624C\>T | C1624T\-F2 | C1624T\-F2\-II1 | Fam | M | Y | Y | A | 29 | 34% | 59\.7% | / | / | Recurrent consciousness disturbance, cognitive decline, personality change, psychomotor agitation, disinhibition |  |
| 4 | 1624 | m.1624C\>T | C1624T\-F2 | C1624T\-F2\-I2 | Uninf | F | N | Y | A | 37 | 17% | / | / | / | Stroke\-like episodes, seizures, psychosis (hallucinations, delusions), alexia, left hemiparesis |  |

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