ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.209G>A (p.Cys70Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003063009 SCV003450563 uncertain significance Noonan syndrome 2022-09-14 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: "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. 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 0.0008%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 70 of the RRAS protein (p.Cys70Tyr).
Ambry Genetics RCV004070343 SCV004088627 uncertain significance not specified 2023-06-22 criteria provided, single submitter clinical testing The p.C70Y variant (also known as c.209G>A), located in coding exon 2 of the RRAS gene, results from a G to A substitution at nucleotide position 209. The cysteine at codon 70 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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