ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)

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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 RCV002957303 SCV003269983 uncertain significance Noonan syndrome 2022-05-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RRAS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant is present in population databases (rs761629413, gnomAD 0.008%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 200 of the RRAS protein (p.Pro200Leu).

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