ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3793A>G (p.Thr1265Ala)

gnomAD frequency: 0.00001  dbSNP: rs1053118797
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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 RCV001921336 SCV002199725 uncertain significance Noonan syndrome 9 2021-12-31 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1265 of the SOS2 protein (p.Thr1265Ala). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. 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.

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