G15498A

# **General Information**

| **Position** | **15498** | **Variant** | **m.15498G\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **G251D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.15498G\>A** variant in MT\-CYB has been reported in 3 pedigrees. To date, 7 carriers have been reported. Homoplasmy was reported in 2/7 carriers (28\.6%), and 3/7 carriers (42\.9%) were affected. The main clinical manifestations among affected carriers included histiocytoid cardiomyopathy, iGF1 Deficiency, scoliosis, sensorineural Hearing Loss (SNHL), severe Growth Retardation, syndactyly, wolff\-Parkinson\-White (WPW) Syndrome, acute tubular necrosis, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15498 | m.15498G\>A | G15498A\-F1 | USA | Histiocytoid cardiomyopathy, Hepatic steatosis, Acute tubular necrosis | 0 | 0 | 2000 | [10960495](https://pubmed.ncbi.nlm.nih.gov/10960495/) |  |
| 2 | 15498 | m.15498G\>A | [G15498A\-F2](https://mitofam.com/doc/1950/) | Japan | Sensorineural Hearing Loss (SNHL), Wolff\-Parkinson\-White (WPW) Syndrome | 9 | 1 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) |  |
| 3 | 15498 | m.15498G\>A | G15498A\-F3 | France | Severe Growth Retardation, IGF1 Deficiency, Syndactyly, Scoliosis | 2 | 0 | 2004 | [14735157](https://pubmed.ncbi.nlm.nih.gov/14735157/) |  |

# **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 | 15498 | m.15498G\>A | G15498A\-F1 | G15498A\-F1\-I1 | Uninf | F | Y | Y | D | 4 weeks | / | / | / | 90% (Liver); 82% (Kidney) | Histiocytoid cardiomyopathy, cardiac arrest, hepatic steatosis, acute tubular necrosis, complex III deficiency | No maternal testing; sporadic/de novo is author\-inferred. |
| 2 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-II6 | Uninf | F | Y | Y | A | 54 | Homo | / | / | / | Sensorineural Hearing Loss (SNHL), Wolff\-Parkinson\-White (WPW) Syndrome |  |
| 3 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. |
| 4 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. |
| 5 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III6 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. |
| 6 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III7 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. |
| 7 | 15498 | m.15498G\>A | G15498A\-F3 | G15498A\-F3\-I1 | Fam | M | Y | Y | ND | 3 | Homo | / | / | Homo (F); Homo (BM) | Severe Growth Retardation, IGF1 Deficiency, Syndactyly, Scoliosis |  |

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