ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.536A>G (p.Asp179Gly) (rs770997822)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681116 SCV000808574 uncertain significance not provided 2018-02-19 criteria provided, single submitter clinical testing The D179G variant in the SOS2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D179G variant is observed in 2/124662 (0.0016%) alleles from individuals of non-Finnish European background, and in 2/268,864 total alleles, in large population cohorts (Lek et al., 2016). The D179G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret D179G as a variant of uncertain significance.

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