ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.175G>C (p.Asp59His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697539 SCV000826158 uncertain significance Noonan syndrome 2018-06-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 59 of the RRAS protein (p.Asp59His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs775437600, ExAC 0.002%). 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 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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