A14091T

# **General Information**

| **Position** | **14091** | **Variant** | **m.14091A\>T** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **K585N** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.14091A\>T** variant in MT\-ND5 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 37\.7% to 49\.1%, with a median of 43\.4% overall; affected carriers showed mutation loads from 49\.1%, with a median of 49\.1%; unaffected carriers showed mutation loads from 37\.7%, with a median of 37\.7%. The main clinical manifestations among affected carriers included developmental delay, diabetes, hearing loss, and seizure.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14091 | m.14091A\>T | [A14091T\-F1](https://mitofam.com/doc/1329/) | USA | mitochondrial disease | 1 | 0 | 2013 | [23463613](https://pubmed.ncbi.nlm.nih.gov/23463613/) | Inherited from mother; grandmother is test\-negative, not a carrier row.; mtWGS case m.14091A\>T; pages 10 and 38; USA inferred from Baylor clinical laboratory cohort/submitting institution |

# **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 | 14091 | m.14091A\>T | A14091T\-F1 | A14091T\-F1\-II1 | Fam | ND | Y | Y | ND | 11 | 49\.1% | / | / | / | developmental delay; seizure; hearing loss; diabetes |  |
| 2 | 14091 | m.14091A\>T | A14091T\-F1 | A14091T\-F1\-I2 | Uninf | F | N | N | ND | ND | 37\.7% | / | / | / | Healthy |  |

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