ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)

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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 RCV002655054 SCV003522872 likely benign Noonan syndrome 9 2023-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004673828 SCV005170317 uncertain significance Cardiovascular phenotype 2024-04-08 criteria provided, single submitter clinical testing The p.C500S variant (also known as c.1499G>C), located in coding exon 10 of the SOS2 gene, results from a G to C substitution at nucleotide position 1499. The cysteine at codon 500 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
PreventionGenetics, part of Exact Sciences RCV004747230 SCV005346570 uncertain significance SOS2-related disorder 2024-08-12 no assertion criteria provided clinical testing The SOS2 c.1499G>C variant is predicted to result in the amino acid substitution p.Cys500Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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