ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.-160A>G (rs727503111)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321701 SCV000377756 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357915 SCV000377757 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150899 SCV000198484 likely benign not specified 2010-09-27 criteria provided, single submitter clinical testing The -160A>G variant in KRAS has not been previously reported in the literature n or been identified by our laboratory. This variant occurs in the 5' UTR of the g ene. Although mutations in 5' UTRs of genes have been shown to affect gene regul ation, no pathogenic mutations in the 5' UTR of KRAS have been reported to date. Therefore, this variant is likely benign, although we cannot rule out that it could contribute to the clinical features observed in this individual.

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