ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3116G>A (p.Gly1039Asp)

dbSNP: rs2124475752
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774201 SCV001994736 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014)

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