ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)

gnomAD frequency: 0.00004  dbSNP: rs761320331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814711 SCV000955132 likely benign Noonan syndrome 9 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166336 SCV003911939 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.E990G variant (also known as c.2969A>G), located in coding exon 19 of the SOS2 gene, results from an A to G substitution at nucleotide position 2969. The glutamic acid at codon 990 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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