ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.184_186GAG[1] (p.Glu63del) (rs730880469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157931 SCV000207866 likely pathogenic Rasopathy 2012-10-18 criteria provided, single submitter clinical testing A variant of unknown significance has been identified. The c.187_189delGAG in-frame deletion has been published as a presumed somatic mutation in a colorectal carcinoma (Ahlquist et al., 2008). The position at which this substitution occurs is highly conserved across species. Two missense mutations in neighboring codons (T58I and G60R) have been reported in association with Noonan syndrome and Cardio-Facio-Cutaneous syndrome respectively (Schubbert et al., 2006 and Niihori et al., 2006). The typical disease-causing mutation in the KRAS gene associated with germline syndromes are missense gain-of-function mutations. It is unknown if this in-frame deletion would result in gain-of-function activity.The variant is found in NOONAN panel(s).

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