ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) (rs397517042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150884 SCV000198458 pathogenic Noonan syndrome; Cardio-facio-cutaneous syndrome 2018-02-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000493013 SCV000582867 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing The F156I missense variant in the KRAS gene has been reported de novo in an individual with Noonan/CFC syndrome (Zenker et al., 2007). The F156I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F156I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same and nearby residues (F156L, V152G, D153V) have been reported in the Human Gene Mutation Database in association with Noonan syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein.

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