ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1544T>C (p.Val515Ala)

dbSNP: rs2139628968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001935116 SCV002174630 uncertain significance Noonan syndrome 9 2021-10-07 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 515 of the SOS2 protein (p.Val515Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. 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. This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is not present in population databases (ExAC no frequency).

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