ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly)

dbSNP: rs777771444
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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 RCV001880152 SCV002171626 uncertain significance Noonan syndrome 9 2023-01-06 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SOS2 protein function. ClinVar contains an entry for this variant (Variation ID: 986295). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (rs777771444, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 397 of the SOS2 protein (p.Arg397Gly).
Ambry Genetics RCV002339703 SCV002642714 uncertain significance Cardiovascular phenotype 2024-03-24 criteria provided, single submitter clinical testing The p.R397G variant (also known as c.1189C>G), located in coding exon 9 of the SOS2 gene, results from a C to G substitution at nucleotide position 1189. The arginine at codon 397 is replaced by glycine, 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 RCV001880152 SCV002763094 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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