ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)

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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 RCV002613851 SCV002963769 likely benign Noonan syndrome 9 2024-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003375648 SCV004096321 uncertain significance Cardiovascular phenotype 2023-06-28 criteria provided, single submitter clinical testing The p.H1157R variant (also known as c.3470A>G), located in coding exon 22 of the SOS2 gene, results from an A to G substitution at nucleotide position 3470. The histidine at codon 1157 is replaced by arginine, 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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