ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3534T>A (p.Ser1178Arg)

dbSNP: rs1572796568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052736 SCV001216961 uncertain significance RASopathy 2019-04-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SOS1-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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 1178 of the SOS1 protein (p.Ser1178Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine.
GeneDx RCV001759789 SCV001985187 uncertain significance not provided 2021-04-09 criteria provided, single submitter clinical testing Not observed 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 does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV002468126 SCV002763562 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468125 SCV002763563 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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