ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp)

gnomAD frequency: 0.00001  dbSNP: rs886041958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000276484 SCV000330768 uncertain significance not provided 2023-01-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000703487 SCV000832390 uncertain significance Noonan syndrome 9 2023-03-30 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 not expected to disrupt SOS2 protein function. ClinVar contains an entry for this variant (Variation ID: 280818). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 815 of the SOS2 protein (p.Asn815Asp).
Genome-Nilou Lab RCV000703487 SCV002763038 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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