ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)

dbSNP: rs780598157
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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 RCV001226516 SCV001398832 uncertain significance Noonan syndrome 9 2019-08-24 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SOS2-related conditions. This variant is present in population databases (rs780598157, ExAC 0.009%). This sequence change replaces glycine with arginine at codon 996 of the SOS2 protein (p.Gly996Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
Ambry Genetics RCV002436877 SCV002751426 uncertain significance Cardiovascular phenotype 2022-02-08 criteria provided, single submitter clinical testing The p.G996R variant (also known as c.2986G>A), located in coding exon 19 of the SOS2 gene, results from a G to A substitution at nucleotide position 2986. The glycine at codon 996 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001226516 SCV002763016 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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