ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)

gnomAD frequency: 0.00001  dbSNP: rs772746106
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560702 SCV000656020 uncertain significance Noonan syndrome 9 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 986 of the SOS2 protein (p.Arg986Lys). This variant is present in population databases (rs772746106, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 475749). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Fulgent Genetics, Fulgent Genetics RCV000560702 SCV000896396 uncertain significance Noonan syndrome 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001779007 SCV002015427 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438486 SCV002751967 uncertain significance Cardiovascular phenotype 2022-03-17 criteria provided, single submitter clinical testing The p.R986K variant (also known as c.2957G>A), located in coding exon 18 of the SOS2 gene, results from a G to A substitution at nucleotide position 2957. The arginine at codon 986 is replaced by lysine, 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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