ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.454G>T (p.Val152Phe) (rs397517041)

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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, Partners HealthCare Personalized Medicine RCV000038273 SCV000061942 likely pathogenic Noonan syndrome 2011-05-03 criteria provided, single submitter clinical testing The Val152Phe variant in KRAS has not been previously reported in the literature or been identified by our laboratory. However, a different amino acid change at this position, Val152Gly, has been reported as a de novo variant in an individu al with severe NS overlapping CS and CFC (Carta 2006). Val152 is conserved acros s evolutionarily distinct species and computational analyses (PolyPhen2, SIFT, A lignGVGD) predict that this variant will impact the normal function of KRAS. It should be noted that the sensitivity and specificity of these computational prog rams has not been determined by our laboratory.

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