ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2836G>C (p.Glu946Gln)

dbSNP: rs1558460847
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732278 SCV000860210 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855769 SCV002188422 uncertain significance RASopathy 2023-05-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 946 of the SOS1 protein (p.Glu946Gln). 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 SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 596437). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Genome-Nilou Lab RCV002468030 SCV002763261 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468029 SCV002763262 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165984 SCV003863136 uncertain significance Cardiovascular phenotype 2022-12-31 criteria provided, single submitter clinical testing The p.E946Q variant (also known as c.2836G>C), located in coding exon 18 of the SOS1 gene, results from a G to C substitution at nucleotide position 2836. The glutamic acid at codon 946 is replaced by glutamine, 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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