ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)

gnomAD frequency: 0.00004  dbSNP: rs775494170
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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 RCV001045013 SCV001208840 likely benign Noonan syndrome 9 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994202 SCV005509529 uncertain significance Cardiovascular phenotype 2024-11-14 criteria provided, single submitter clinical testing The p.S271G variant (also known as c.811A>G), located in coding exon 6 of the SOS2 gene, results from an A to G substitution at nucleotide position 811. The serine at codon 271 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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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