C14568T

# **General Information**

| **Position** | **14568** | **Variant** | **m.14568C\>T** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **G36S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-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.14568C\>T** variant in MT\-ND6 has been reported in 9 pedigrees. To date, 20 carriers have been reported. Homoplasmy was reported in 8/20 carriers (40%), and 10/20 carriers (50%) were affected. The main clinical manifestations among affected carriers included LHON, affected LHON, lHON\_visual\_loss, typical LHON, typical LHON with bilateral visual loss, VA\_LA\_0\.01, VA\_RA\_0\.03, affected\_maternal\_line\_yes, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14568 | m.14568C\>T | [C14568T\-F1](https://mitofam.com/doc/2108/) | Germany | LHON | 4 | 0 | 1997 | [9177303](https://pubmed.ncbi.nlm.nih.gov/9177303/) |  |
| 2 | 14568 | m.14568C\>T | [C14568T\-F2](https://mitofam.com/doc/2111/) | Germany | LHON | 4 | 0 | 1999 | [10447650](https://pubmed.ncbi.nlm.nih.gov/10447650/) |  |
| 3 | 14568 | m.14568C\>T | C14568T\-F3 | Germany | LHON | 0 | 1 | 2002 | [12150954](https://pubmed.ncbi.nlm.nih.gov/12150954/) |  |
| 4 | 14568 | m.14568C\>T | C14568T\-F4 | Germany | LHON | 0 | 1 | 2002 | [12324878](https://pubmed.ncbi.nlm.nih.gov/12324878/) |  |
| 5 | 14568 | m.14568C\>T | C14568T\-F5 | Italy | LHON | 0 | 0 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |
| 6 | 14568 | m.14568C\>T | C14568T\-F6 | Germany | LHON | 0 | 0 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |
| 7 | 14568 | m.14568C\>T | C14568T\-F7 | United States | LHON | 0 | 0 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |
| 8 | 14568 | m.14568C\>T | C14568T\-F8 | Germany | LHON | 0 | 1 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |
| 9 | 14568 | m.14568C\>T | C14568T\-F9 | Germany | LHON | 0 | 0 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |

# **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 | 14568 | m.14568C\>T | C14568T\-F1 | C14568T\-F1\-III1 | Fam | M | Y | Y | ND | ND | Detected; load NR | / | / | / | LHON; typical clinical picture and course; no neurological or muscular complaints during one\-year observation | Original label LHON233III1 |
| 2 | 14568 | m.14568C\>T | C14568T\-F1 | C14568T\-F1\-III2 | Fam | M | N | N | ND | ND | Detected; load NR | / | / | / | Healthy |  |
| 3 | 14568 | m.14568C\>T | C14568T\-F1 | C14568T\-F1\-II3 | Fam | F | N | N | ND | ND | Detected; load NR | / | / | / | Healthy |  |
| 4 | 14568 | m.14568C\>T | C14568T\-F1 | C14568T\-F1\-II2 | Fam | M | N | N | ND | ND | Detected; load NR | / | / | / | Healthy | Original label LHON233maternaluncle |
| 5 | 14568 | m.14568C\>T | C14568T\-F1 | C14568T\-F1\-II1 | Fam | F | N | N | ND | ND | Detected; load NR | / | / | / | Healthy | Original label LHON233maternalaunt |
| 6 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-III1 | Fam | M | Y | Y | A | 16 | Homo | / | / | / | Typical LHON with bilateral visual loss, scotomas, temporal optic atrophy |  |
| 7 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-II3 | Fam | F | N | N | A | 43 | Homo | / | / | / | Healthy |  |
| 8 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-III2 | Fam | M | N | N | A | 14 | Homo | / | / | / | Healthy |  |
| 9 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-II1 | Fam | F | N | N | A | 41 | Homo | / | / | / | Healthy |  |
| 10 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-II2 | Fam | M | N | N | A | 48 | Homo | / | / | / | Healthy |  |
| 11 | 14568 | m.14568C\>T | C14568T\-F3 | C14568T\-F3\-P1 | Fam | M | Y | Y | ND | 41\_onset | / | / | / | / | Typical LHON; bilateral optic atrophy; central scotomas; VA\_RA\_0\.03; VA\_LA\_0\.01; ppma\_yes; affected\_maternal\_line\_yes; son\_of\_cousin\_affected | Original label patient 1 |
| 12 | 14568 | m.14568C\>T | C14568T\-F4 | C14568T\-F4\-P1 | Fam | M | Y | Y | D | 42 | Homo | / | / | / | LHON\_visual\_loss;central\_scotomas;optic\_atrophy;peripapillary\_microangiopathy |  |
| 13 | 14568 | m.14568C\>T | C14568T\-F5 | C14568T\-F5\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON |  |
| 14 | 14568 | m.14568C\>T | C14568T\-F6 | C14568T\-F6\-P1 | Fam | ND | Y | Y | ND | ND | Present; load NR | / | / | / | LHON |  |
| 15 | 14568 | m.14568C\>T | C14568T\-F7 | C14568T\-F7\-P1 | Fam | ND | Y | Y | ND | ND | Present; load NR | / | / | / | LHON |  |
| 16 | 14568 | m.14568C\>T | C14568T\-F8 | C14568T\-F8\-P1 | Fam | ND | Y | Y | ND | ND | 60% | about 90% | about 90% | 60% (Platelets) | LHON |  |
| 17 | 14568 | m.14568C\>T | C14568T\-F8 | C14568T\-F8\-P2 | Fam | M | N | Y | ND | ND | Similar to proband; exact NR | Similar to proband; exact NR | Similar to proband; exact NR | / | Affected LHON |  |
| 18 | 14568 | m.14568C\>T | C14568T\-F8 | C14568T\-F8\-P3 | Fam | F | N | ND | ND | ND | Trace | / | / | / | Clinical status not recoverable |  |
| 19 | 14568 | m.14568C\>T | C14568T\-F8 | C14568T\-F8\-P4 | Fam | F | N | ND | ND | ND | Trace | / | / | / | Clinical status not recoverable |  |
| 20 | 14568 | m.14568C\>T | C14568T\-F9 | C14568T\-F9\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON |  |

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