A14430C

# **General Information**

| **Position** | **14430** | **Variant** | **m.14430A\>C** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **W82G** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.14430A\>C** variant in MT\-ND6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 88\.2%, with a median of 0% overall; affected carriers showed mutation loads from 88\.2%, with a median of 88\.2%; unaffected carriers showed mutation loads from 0% to 5%, with a median of 0%. The main clinical manifestations among affected carriers included leigh syndrome, basal ganglia, brainstem lesions, encephalopathy, hypotonia, impaired vision, lactic acidosis, neuroregression, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14430 | m.14430A\>C | A14430C\-F1 | South Africa | Leigh syndrome | 1 | 0 | 2024 | [38571879](https://pubmed.ncbi.nlm.nih.gov/38571879/) |  |

# **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 | 14430 | m.14430A\>C | A14430C\-F1 | A14430C\-F1\-P1 | Fam | M | Y | Y | D | 19 weeks; died at 7 months | 88\.2% | / | High by Sanger; NR | F high by Sanger; NR | Leigh syndrome; lactic acidosis, encephalopathy, neuroregression, hypotonia, impaired vision/nystagmus, basal ganglia/thalamus/brainstem lesions, respiratory failure |  |
| 2 | 14430 | m.14430A\>C | A14430C\-F1 | A14430C\-F1\-P2 | Fam | F | N | N | A | ND | 0 | 5% | 0 | F 0 | Healthy |  |

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