ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) (rs772746106)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000560702 SCV000896396 uncertain significance Noonan syndrome 9 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000560702 SCV000656020 uncertain significance Noonan syndrome 9 2017-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 986 of the SOS2 protein (p.Arg986Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs772746106, ExAC 0.002%). This variant has not been reported in the literature in individuals with SOS2-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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