ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp)

dbSNP: rs553331572
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265502 SCV002547236 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); 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; This variant is associated with the following publications: (PMID: 29493581)
Fulgent Genetics, Fulgent Genetics RCV002488661 SCV002785638 uncertain significance Fibromatosis, gingival, 1; Noonan syndrome 4 2021-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096001 SCV003519515 likely benign RASopathy 2023-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV005281157 SCV005947549 uncertain significance Cardiovascular phenotype 2025-01-06 criteria provided, single submitter clinical testing The p.E590D variant (also known as c.1770G>C), located in coding exon 10 of the SOS1 gene, results from a G to C substitution at nucleotide position 1770. The glutamic acid at codon 590 is replaced by aspartic acid, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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