T13271C

# **General Information**

| **Position** | **13271** | **Variant** | **m.13271T\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **L312P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.13271T\>C** variant in MT\-ND5 has been reported in 1 pedigree. To date, 5 carriers have been reported. Reported mutation loads ranged from 1\.9% to 76\.6%, with a median of 4\.9% overall; affected carriers showed mutation loads from 7\.2% to 76\.6%, with a median of 16\.8%; unaffected carriers showed mutation loads from 1\.9% to 2\.7%, with a median of 2\.4%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (76\.6%) and urine (16\.8%) than in blood (7\.2%). The main clinical manifestations among affected carriers included exercise\-related dyspnea and muscle pain.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13271 | m.13271T\>C | [T13271C\-F1](https://mitofam.com/doc/1385/) | Norway | Exercise intolerance | 4 | 0 | 2008 | [18396045](https://pubmed.ncbi.nlm.nih.gov/18396045/) | Norwegian family; Table 1 and text.; Norway; Norwegian family and clinical/laboratory setting. |

# **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 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II1 | Fam | F | Y | Y | A | 27 y; onset 8 y | 7\.2% | 76\.6% | 16\.8% | / | Exercise\-related dyspnea and muscle pain | Clinical description and Table 1\.; Source: Index patient; Elevated lactate; ragged\-brown fibers; reduced complex I. |
| 2 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-I2 | Fam | F | N | N | A | ND | 2\.66% | 2\.4% | 1\.95% | / | Healthy | Table 1 and family description.; Source: Mother; No neuromuscular symptoms. |
| 3 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II2 | Fam | ND | N | N | A | 23 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. One of three younger siblings. |
| 4 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II3 | Fam | ND | N | N | A | 18 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. One of three younger siblings. |
| 5 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II4 | Fam | ND | N | N | A | 10 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. One of three younger siblings. |

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