ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.576A>G (p.Lys192=)

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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 RCV003832679 SCV004630165 uncertain significance Noonan syndrome 2023-02-11 criteria provided, single submitter clinical testing This sequence change affects codon 192 of the RRAS mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RRAS protein. This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with RRAS-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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