ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.211T>G (p.Tyr71Asp) (rs387907205)

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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, Partners HealthCare Personalized Medicine RCV000221667 SCV000271233 likely pathogenic Cardio-facio-cutaneous syndrome 2016-03-25 criteria provided, single submitter clinical testing The p.Tyr71Asp variant in KRAS has been identified by our laboratory as an appar ently de novo variant in one individual with a RASopathy and was absent from lar ge population studies. In addition, a different variant at the same position (p. Tyr71His) has been reported in as a de novo variant in 1 adult with CFC and segr egated with disease in her affected child (Stark 2012), raising the possibility that a change at this position may not be tolerated. In vitro functional studies suggest an impact to the protein (Cirstea 2013). However, these types of assays may not accurately represent biological function. Computational prediction tool s and conservation analysis suggest that the p.Tyr71Asp variant may impact the p rotein, though this information is not predictive enough to determine pathogenic ity. In summary, due to the de novo occurrence the p.Tyr71Asp variant is likely to be pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596230 SCV000702347 likely pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing

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