ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.754A>G (p.Ile252Val)

dbSNP: rs1158811958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773911 SCV001992134 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002388640 SCV002672847 uncertain significance Cardiovascular phenotype 2022-04-06 criteria provided, single submitter clinical testing The p.I252V variant (also known as c.754A>G), located in coding exon 6 of the SOS1 gene, results from an A to G substitution at nucleotide position 754. The isoleucine at codon 252 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468297 SCV002763505 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468296 SCV002763506 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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