ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2492T>G (p.Leu831Arg)

gnomAD frequency: 0.00002  dbSNP: rs553153992
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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 RCV002027733 SCV002310393 likely benign Noonan syndrome 9 2025-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044725 SCV005025049 uncertain significance Cardiovascular phenotype 2024-02-03 criteria provided, single submitter clinical testing The p.L831R variant (also known as c.2492T>G), located in coding exon 15 of the SOS2 gene, results from a T to G substitution at nucleotide position 2492. The leucine at codon 831 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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