ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu)

gnomAD frequency: 0.00001  dbSNP: rs756711721
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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 RCV002020346 SCV002289377 likely benign Noonan syndrome 9 2023-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170569 SCV003911937 uncertain significance Cardiovascular phenotype 2022-12-01 criteria provided, single submitter clinical testing The p.F910L variant (also known as c.2730T>A), located in coding exon 17 of the SOS2 gene, results from a T to A substitution at nucleotide position 2730. The phenylalanine at codon 910 is replaced by leucine, 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.

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