ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.-163AGC[3]

dbSNP: rs397517034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038253 SCV000061921 likely benign not specified 2011-08-12 criteria provided, single submitter clinical testing -160_-158dupAGC in KRAS 5' UTR: This variant has not been previously reported in the literature or been identified in our laboratory. The 5' UTR plays a role in the regulation of gene expression and variants in this region have been shown t o alter protein translation (Mendell 2001, Scheper 2007). This type of variant h as not been previously reported in an individual with a Noonan spectrum disorder .

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