ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2707G>A (p.Val903Met)

gnomAD frequency: 0.00007  dbSNP: rs745788940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225500 SCV001397782 benign Noonan syndrome 9 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163756 SCV003911935 uncertain significance Cardiovascular phenotype 2022-11-02 criteria provided, single submitter clinical testing The p.V903M variant (also known as c.2707G>A), located in coding exon 17 of the SOS2 gene, results from a G to A substitution at nucleotide position 2707. The valine at codon 903 is replaced by methionine, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323821 SCV004029030 uncertain significance not specified 2023-07-29 criteria provided, single submitter clinical testing

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