ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.-48_-29dup

gnomAD frequency: 0.00063  dbSNP: rs730880342
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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, Mass General Brigham Personalized Medicine RCV000154589 SCV000204262 likely benign not specified 2012-05-17 criteria provided, single submitter clinical testing -48_-29dup in the 5'UTR of exon 1 of KRAS: The -48_-29dup variant in the KRAS 5' UTR has not been previously reported in the literature. We have identified this variant in one proband and a reportedly unaffected parent in our laboratory. Th e 5' UTR plays a role in the regulation of gene expression and variants in this region have been shown to alter protein translation (Mendell 2001, Scheper 2007) . This type of variant has not been previously reported in an individual with a Noonan spectrum disorder.
GeneDx RCV001535247 SCV001752244 benign not provided 2015-10-23 criteria provided, single submitter clinical testing

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