ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn)

dbSNP: rs769787486
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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 RCV001896158 SCV002167335 uncertain significance Noonan syndrome 9 2023-07-22 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SOS2 protein function. ClinVar contains an entry for this variant (Variation ID: 1392321). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (rs769787486, gnomAD 0.007%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 722 of the SOS2 protein (p.Lys722Asn).
Ambry Genetics RCV002425187 SCV002727376 uncertain significance Cardiovascular phenotype 2022-04-10 criteria provided, single submitter clinical testing The p.K722N variant (also known as c.2166A>T), located in coding exon 14 of the SOS2 gene, results from an A to T substitution at nucleotide position 2166. The lysine at codon 722 is replaced by asparagine, an amino acid with 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 RCV001896158 SCV002763051 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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