C15347T

# **General Information**

| **Position** | **15347** | **Variant** | **m.15347C\>T** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **H201Y** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | VUS\+ | **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.15347C\>T** variant in MT\-CYB has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 19% to 87\.5%, with a median of 53\.2% overall; affected carriers showed mutation loads from 19% to 87\.5%, with a median of 53\.2%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in heart (87\.5%) than in blood (19%). The main clinical manifestations among affected carriers included neonatal progressive HCM, elevated serum and CSF lactate, hyperinsulinemic hypoglycemia, and renal cortical dysplasia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15347 | m.15347C\>T | C15347T\-F1 | USA | Neonatal progressive HCM, renal cortical dysplasia, hyperinsulinemic hypoglycemia, elevated serum/CSF lactate | 0 | 0 | 2025 | [40241304](https://pubmed.ncbi.nlm.nih.gov/40241304/) |  |

# **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 | 15347 | m.15347C\>T | C15347T\-F1 | C15347T\-F1\-I1 | De novo | M | Y | Y | D | 6 months | 19% | / | / | 87\.5% (Heart) | Neonatal progressive HCM, renal cortical dysplasia, hyperinsulinemic hypoglycemia, elevated serum and CSF lactate | Mother blood and urine negative; de novo suggested. |

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