ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3451C>T (p.Pro1151Ser)

dbSNP: rs2124458641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799838 SCV002043827 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001885237 SCV002116149 uncertain significance RASopathy 2020-11-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 expected to disrupt SOS1 protein function. This variant has not been reported in the literature in individuals with SOS1-related conditions. This sequence change replaces proline with serine at codon 1151 of the SOS1 protein (p.Pro1151Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
Genome-Nilou Lab RCV002468315 SCV002763210 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468314 SCV002763211 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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