ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.*11G>A

dbSNP: rs1565878932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681139 SCV000808597 pathogenic not provided 2018-03-16 criteria provided, single submitter clinical testing The D153N variant in the KRAS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a missense variant at this same codon (D153V) has been reported previously in association with Noonan syndrome (Schubbert et al., 2006) and in the allelic disorder cardiofaciocutaneous syndrome (Niihori et al., 2006). The D153N variant is not observed in large population cohorts (Lek et al., 2016). The D153N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In addition, the majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014). We interpret D153N as a pathogenic variant.

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