ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.115G>A (p.Glu39Lys) (rs375934353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681137 SCV000808595 likely benign not provided 2018-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000702263 SCV000831110 uncertain significance Rasopathy 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 39 of the SOS1 protein (p.Glu39Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs375934353, ExAC 0.01%). This variant has not been reported in the literature in individuals with SOS1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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