ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp)

gnomAD frequency: 0.00001  dbSNP: rs1884935096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919032 SCV002179046 uncertain significance Noonan syndrome 9 2022-04-01 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. 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). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 519 of the SOS2 protein (p.Glu519Asp).
Ambry Genetics RCV002397901 SCV002704920 uncertain significance Cardiovascular phenotype 2022-04-04 criteria provided, single submitter clinical testing The p.E519D variant (also known as c.1557G>C), located in coding exon 10 of the SOS2 gene, results from a G to C substitution at nucleotide position 1557. The glutamic acid at codon 519 is replaced by aspartic 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.
Genome-Nilou Lab RCV001919032 SCV002763072 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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