ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3145T>C (p.Ser1049Pro)

dbSNP: rs2139513028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895505 SCV002156159 uncertain significance Noonan syndrome 9 2022-09-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1381662). This missense change has been observed in individual(s) with clinical features of SOS2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1049 of the SOS2 protein (p.Ser1049Pro). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793565 SCV005409701 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing PM2

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