ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304130 SCV001493400 uncertain significance Noonan syndrome 9 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 773 of the SOS2 protein (p.Asp773Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SOS2-related conditions. 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. 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.

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