ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.-54C>T

dbSNP: rs397517036
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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 RCV000038255 SCV000061923 likely benign not specified 2012-02-15 criteria provided, single submitter clinical testing -54C>T in the 5'UTR of KRAS: This variant is located in the 5'UTR and variants i n regulatory regions could have an effect on transcriptional or translational ef ficiency. However, no variants in this region of KRAS have been found to be path ogenic in individuals with Noonan spectrum disorders. Therefore, this variant is not expected to have clinical significance.

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