ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2471G>A (p.Arg824His)

gnomAD frequency: 0.00001  dbSNP: rs1433825913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770692 SCV001992711 uncertain significance not provided 2019-06-19 criteria provided, single submitter clinical testing 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001861099 SCV002156390 uncertain significance Noonan syndrome 9 2022-03-08 criteria provided, single submitter clinical testing 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: 1306512). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 824 of the SOS2 protein (p.Arg824His).
Genome-Nilou Lab RCV001861099 SCV002763037 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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