| Geno
|
Mag
|
Summary
|
| (C;G)
|
3
|
Variant of unclear significance
|
| (G;G)
|
0
|
common in clinvar
|
rs45496496, also known as c.2890G>C, p.Val964Leu and V964L, represents a very rare in the MYH7 gene on chromosome 14. The minor allele has a frequency of around 1 in 2000 (0.0004 or so).
The majority of clinical testing labs reporting to ClinVar believe the minor allele to be most likely benign, although a minority of labs, as well as algorithmic prediction software, feel it might be a pathogenic mutation potentially associated with autosomally dominant primary dilated cardiomyopathy.
| ClinVar
|
| Risk
|
rs45496496(C;C) |
| Alt
|
rs45496496(C;C) |
| Reference
|
Rs45496496(G;G) |
| Significance |
Other |
| Disease |
not specified Primary dilated cardiomyopathy Hypertrophic cardiomyopathy Laing distal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy Myosin storage myopathy Scapuloperoneal myopathy not provided |
| Variation | info |
|---|
| Gene |
MYH7 |
| CLNDBN |
not specified Primary dilated cardiomyopathy Hypertrophic cardiomyopathy Laing distal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Myosin storage myopathy Scapuloperoneal myopathy not provided |
| Reversed |
1 |
| HGVS |
NC_000014.8:g.23893148C>G |
| CLNSRC |
Children's Hospital of Eastern Ontario |
| CLNACC |
RCV000035831.6, RCV000171841.2, RCV000229046.3, RCV000277164.1, RCV000282513.1, RCV000332160.1, RCV000337581.1, RCV000378228.1, RCV000415867.2, |
