ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3707C>T (p.Pro1236Leu)

dbSNP: rs1403796339
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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 RCV001902610 SCV002157462 uncertain significance Noonan syndrome 9 2021-04-04 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with SOS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 1236 of the SOS2 protein (p.Pro1236Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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