G14465A

# **General Information**

| **Position** | **14465** | **Variant** | **m.14465G\>A** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **T70I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | VUS\+ | **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.14465G\>A** variant in MT\-ND6 has been reported in 6 pedigrees. To date, 11 carriers have been reported. Homoplasmy was reported in 2/11 carriers (18\.2%), and 7/11 carriers (63\.6%) were affected. The main clinical manifestations among affected carriers included developmental delay, LHON, lacked coordination, leigh syndrome, leigh\-like mitochondrial disease, MDC 5, mRI left optic nerve volume decrease, metabolic disorder, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14465 | m.14465G\>A | G14465A\-F1 | USA | Leigh\-like mitochondrial disease | 0 | 0 | 2020 | [32652755](https://pubmed.ncbi.nlm.nih.gov/32652755/) |  |
| 2 | 14465 | m.14465G\>A | G14465A\-F2 | USA | Mitochondrial disease with complex phenotype | 1 | 1 | 2020 | [32652755](https://pubmed.ncbi.nlm.nih.gov/32652755/) |  |
| 3 | 14465 | m.14465G\>A | G14465A\-F3 | USA | Leigh\-like mitochondrial disease | 0 | 0 | 2020 | [32652755](https://pubmed.ncbi.nlm.nih.gov/32652755/) |  |
| 4 | 14465 | m.14465G\>A | G14465A\-F4 | Korea | LHON | 3 | 0 | 2021 | [34264415](https://pubmed.ncbi.nlm.nih.gov/34264415/) |  |
| 5 | 14465 | m.14465G\>A | G14465A\-F5 | Uruguay | Leigh syndrome | 0 | 0 | 2021 | [34536563](https://pubmed.ncbi.nlm.nih.gov/34536563/) |  |
| 6 | 14465 | m.14465G\>A | G14465A\-F6 | Italy | LHON | 0 | 0 | 2023 | [37628761](https://pubmed.ncbi.nlm.nih.gov/37628761/) |  |

# **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 | 14465 | m.14465G\>A | G14465A\-F1 | G14465A\-F1\-P1 | Uninf | F | Y | Y | A | 9 | / | Homo | / | / | Developmental delay, hypotonia, encephalopathy, lactic acidosis, microcephaly | Original label K1\-P1 |
| 2 | 14465 | m.14465G\>A | G14465A\-F2 | G14465A\-F2\-P1 | Fam | M | Y | Y | A | 2 | Homo | / | / | / | Metabolic disorder, quadriparesis, transposition of great arteries, global delays, regression, constipation, delayed gastric emptying | Original label K2\-P1 |
| 3 | 14465 | m.14465G\>A | G14465A\-F2 | G14465A\-F2\-P2 | Fam | F | N | Y | A | ND | / | / | / | 73\.9% (ND) | Lacked coordination |  |
| 4 | 14465 | m.14465G\>A | G14465A\-F2 | G14465A\-F2\-P3 | Fam | F | N | N | A | ND | about 50% | / | / | / | Healthy |  |
| 5 | 14465 | m.14465G\>A | G14465A\-F3 | G14465A\-F3\-P1 | De novo | F | Y | Y | A | 11 | 92\.8% | / | / | / | Leigh\-like mitochondrial disease | Original label K3\-P1 |
| 6 | 14465 | m.14465G\>A | G14465A\-F4 | G14465A\-F4\-P1 | Fam | M | Y | Y | A | 14 y eval | 72%\-76% | / | / | / | Subacute painless bilateral visual loss; optic disc pallor; cecocentral scotomas; abnormal visual evoked potentials; MRI left optic nerve volume decrease |  |
| 7 | 14465 | m.14465G\>A | G14465A\-F4 | G14465A\-F4\-P2 | Fam | F | N | N | A | ND | 11% | / | / | / | Healthy |  |
| 8 | 14465 | m.14465G\>A | G14465A\-F4 | G14465A\-F4\-P3 | Fam | M | N | N | A | ND | 9% | / | / | / | Healthy |  |
| 9 | 14465 | m.14465G\>A | G14465A\-F4 | G14465A\-F4\-P4 | Fam | M | N | N | A | ND | 13% | / | / | / | Healthy |  |
| 10 | 14465 | m.14465G\>A | G14465A\-F5 | G14465A\-F5\-P1 | Uninf | ND | Y | Y | ND | 15 y | 93% | / | / | / | Leigh syndrome; onset 1 y; MDC 5; muscular compromise | Original label P7 |
| 11 | 14465 | m.14465G\>A | G14465A\-F6 | G14465A\-F6\-P1 | Uninf | M | Y | Y | A | 34 | / | / | / | 91%(F) | LHON; bilateral painless vision loss; visual acuity R 1 L 1; idebenone therapy yes; vision recovery yes |  |

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