ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) (rs1553353452)

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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 RCV000612075 SCV000712601 likely pathogenic Noonan syndrome 2016-11-17 criteria provided, single submitter clinical testing The p.Glu891Lys variant in SOS1 has been identified by our laboratory as a de no vo variant in one individual with clinical features of Noonan syndrome. This var iant was absent from large population studies. Computational prediction tools an d conservation analysis do not provide strong support for or against an impact t o the protein. In summary, although additional studies are required to fully est ablish its clinical significance, the p.Glu891Lys variant is likely pathogenic.

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