ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697940 SCV000826574 uncertain significance Noonan syndrome 2018-05-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 17 of the RRAS protein (p.Gly17Trp). The glycine residue is weakly conserved and there is a large physicochemical difference between glycine and tryptophan. While this variant is present in population databases (rs373359206), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RRAS-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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