T9997C

# **General Information**

| **Position** | **9997** | **Variant** | **m.9997T\>C** | **Locus** | **MT\-TG** | **RNA** | **tRNA Gly** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 80\.30% | **Pathogenicity** | Reported \[VUS] |

"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.9997T\>C** variant in MT\-TG has been reported in 1 pedigree. To date, 9 carriers have been reported. Reported mutation loads ranged from 6\.2% to 88\.1%, with a median of 73\.5% overall; affected carriers showed mutation loads from 43\.4% to 88\.1%, with a median of 77\.3%; unaffected carriers showed mutation loads from 6\.2% to 30\.8%, with a median of 9\.9%. The main clinical manifestations among affected carriers included cardiomyopathy, chronic intestinal disorder, fatal ventricular arrhythmia, hypertension, severe intestinal motility, angina, hypertrophic cardiomyopathy, and severe intestinal dysmotility.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9997 | m.9997T\>C | [T9997C\-F1](https://mitofam.com/doc/574/) | Canada | Hypertrophic cardiomyopathies | 13 | 11 | 1994 | [8079988](https://pubmed.ncbi.nlm.nih.gov/8079988/) |  |

# **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 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-V5 | Fam | M | Y | Y | D | 8\.5 months | / | / | / | / | Fatal ventricular arrhythmia, hypertrophic cardiomyopathy |  |
| 2 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-V4 | Fam | M | N | Y | A | 11 | 88% | 73\.5% | / | Hair 77\.8%(H), 88\.1%(Heart) | Cardiomyopathy |  |
| 3 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-V3 | Fam | F | N | Y | A | 5 | 72\.3% | 65\.1% | / | Hair 77\.8%(H), 71%(Heart) | Severe intestinal motility,cardiomyopathy |  |
| 4 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-IV21 | Fam | F | N | Y | A | 42 | 82\.3% | / | / | 76\.9%(H) | Hypertension, severe intestinal dysmotility,cardiomyopathy |  |
| 5 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-IV19 | Fam | M | N | Y | A | 49 | 83\.2% | / | / | / | Chronic intestinal disorder,cardiomyopathy |  |
| 6 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-IV17 | Fam | F | N | N | A | 30 | 9\.9% | / | / | / | Lupus, irritable bowel syndrome |  |
| 7 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-IV16 | Fam | M | N | N | A | 27 | 6\.2% | / | / | / | Lupus |  |
| 8 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-III13 | Fam | F | N | Y | A | 72 | 43\.4% | / | / | / | Chronic intestinal disorder, angina,cardiomyopathy |  |
| 9 | 9997 | m.9997T\>C | T9997C\-F1 | T9997C\-F1\-III11 | Fam | F | N | N | A | 60 | 30\.8% | / | / | / | Chronic intestinal disorder, esophageal stricture |  |

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