ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1159C>A (p.Arg387=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002858541 SCV003233093 uncertain significance Noonan syndrome 9 2022-08-25 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This sequence change affects codon 387 of the SOS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SOS2 protein.

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