ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) (rs727504640)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre RCV000492503 SCV000494670 likely pathogenic Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155901 SCV000205612 uncertain significance not specified 2013-06-28 criteria provided, single submitter clinical testing The Arg585Leu variant in CBL has not been previously reported in individuals wi th clinical features of Noonan syndrome or in large population studies. Computat ional analyses (biochemical amino acid properties, conservation, AlignGVGD, Poly Phen2, and SIFT) do not provide strong support for or against an impact to the p rotein. In summary, additional information is needed to fully assess the clinica l significance of the Arg585Leu variant.

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