ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1492C>G (p.Gln498Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003043625 SCV003345327 uncertain significance Noonan syndrome 9 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 498 of the SOS2 protein (p.Gln498Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. 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. 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.
Ambry Genetics RCV004068734 SCV005024831 uncertain significance Cardiovascular phenotype 2024-01-01 criteria provided, single submitter clinical testing The p.Q498E variant (also known as c.1492C>G), located in coding exon 10 of the SOS2 gene, results from a C to G substitution at nucleotide position 1492. The glutamine at codon 498 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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