ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.198A>G (p.Ala66=) (rs200229810)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000590059 SCV000885639 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270388 SCV000377752 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306687 SCV000377753 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590059 SCV000699770 benign not provided 2016-03-28 criteria provided, single submitter clinical testing Variant summary: Variant affects a non-conserved nucleotide and results in synonymous mutation. Mutation taster predicts a benign outcome for this change and 3/5 in silito tools via Alamut predict the variant not to affect splicing. The variant was predominantly observed in the Non-Finnish European cohort of the ExAC project at an allele frequency of 0.018% which exceeds the maximal expected allele frequency of a disease causing KRAS allele (0.0012%) indicating neutrality. To our knowledge, the variant has not been reported in NSRD patients via publications , nor evaluated for functional impact by in vivo/vitro studies. A clinical diagnostic center classifies variant as Likely Benign via ClinVar (without evidence to independently evaluate). Considering all evidence, the variant was classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038260 SCV000061929 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing p.Ala66Ala in exon 3 of KRAS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 12/66636 of Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs200229810).

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