ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) (rs1135401776)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 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.

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