C12350A

# **General Information**

| **Position** | **12350** | **Variant** | **m.12350C\>A** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **T5N** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | 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.12350C\>A** variant in MT\-ND5 has been reported in 1 pedigree. To date, 1 carrier has been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included neurodevelopmental delay and profound sensorineural hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12350 | m.12350C\>A | C12350A\-F1 | Tunisia | profound sensorineural hearing loss and neurodevelopmental delay | 0 | 0 | 2016 | [27155156](https://pubmed.ncbi.nlm.nih.gov/27155156/) | variant effect uncertain/possibly benign; still original carrier evidence.; Patient P2; pages 1,5\-6; Tunisian patients and institutions |

# **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 | 12350 | m.12350C\>A | C12350A\-F1 | C12350A\-F1\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | Heteroplasmic(ND) | profound sensorineural hearing loss; neurodevelopmental delay | tissue/source and heteroplasmy percentage not numerically stated in extracted text; Table 2 lists P2 m.12350C\>A heteroplasmic; Source: P2 |

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