A14597G

# **General Information**

| **Position** | **14597** | **Variant** | **m.14597A\>G** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **I26T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.14597A\>G** variant in MT\-ND6 has been reported in 2 pedigrees. To date, 4 carriers have been reported. Reported mutation loads ranged from 17% to 91%, with a median of 71% overall; affected carriers showed mutation loads from 25% to 91%, with a median of 81\.5%; unaffected carriers showed mutation loads from 17% to 66%, with a median of 41\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (87%) and fibroblasts (76%) than in blood (25%). The main clinical manifestations among affected carriers included leigh syndrome, sudden painless bilateral vision loss, apnea, basal ganglia lesions, centrocecal scotoma, elevated lactate, functional evidence of complex I deficiency, hearing impairment, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14597 | m.14597A\>G | A14597G\-F1 | Russia | LHON | 0 | 0 | 2019 | [31669237](https://pubmed.ncbi.nlm.nih.gov/31669237/) |  |
| 2 | 14597 | m.14597A\>G | A14597G\-F2 | Japan | Leigh syndrome | 2 | 0 | 2021 | [34045482](https://pubmed.ncbi.nlm.nih.gov/34045482/) |  |

# **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 | 14597 | m.14597A\>G | A14597G\-F1 | A14597G\-F1\-P1 | Uninf | ND | Y | Y | A | 39 | 25% | / | 87% | 76% (F) | Sudden painless bilateral vision loss; severe dyschromatopsia; centrocecal scotoma; subjective visual recovery; functional evidence of complex I deficiency |  |
| 2 | 14597 | m.14597A\>G | A14597G\-F2 | A14597G\-F2\-P1 | Fam | M | Y | Y | D | 1 month 12 days | / | / | / | 91% (F) | Leigh syndrome; lethargy; poor suckling; weight loss; myoclonic seizure; apnea; basal ganglia lesions; elevated lactate; hearing impairment; optic nerve atrophy | Original label Pt677 |
| 3 | 14597 | m.14597A\>G | A14597G\-F2 | A14597G\-F2\-P2 | Fam | F | N | N | A | ND | 17% | / | / | / | Healthy |  |
| 4 | 14597 | m.14597A\>G | A14597G\-F2 | A14597G\-F2\-P3 | Fam | F | N | N | A | ND | 66% | / | / | / | Healthy |  |

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