Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000496202 | SCV000586721 | pathogenic | Noonan syndrome 3 | 2017-08-01 | criteria provided, single submitter | clinical testing | The missense variant c.440A>G, p.(Lys147Arg) in KRAS was identified in a girl with moderate ID, facial dysmorphism and normal growth. This variant could be excluded in her mother, while a paternal sample was not available. However, another missense mutation p.(Lys147Glu) at the same residue has been reported in a girl with Noonan syndrome and normal height, and the amino acid Lys147 has been shown to be one of the major ubiquitination sites of the KRAS protein. |