ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)

gnomAD frequency: 0.00001  dbSNP: rs1162824119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303565 SCV001492814 uncertain significance Noonan syndrome 2022-06-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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. ClinVar contains an entry for this variant (Variation ID: 1006512). This variant has not been reported in the literature in individuals affected with RRAS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 170 of the RRAS protein (p.Glu170Gly).

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