ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1214G>A (p.Cys405Tyr)

dbSNP: rs1005855156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751933 SCV001986617 uncertain significance not provided 2020-09-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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