ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773575 SCV001992118 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002541572 SCV003291086 uncertain significance Noonan syndrome 9 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 195 of the SOS2 protein (p.Gly195Ala). 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. 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. ClinVar contains an entry for this variant (Variation ID: 981589). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261120 SCV001438527 likely benign Noonan syndrome no assertion criteria provided clinical testing

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