ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.422G>C (p.Gly141Ala)

gnomAD frequency: 0.00001  dbSNP: rs369240501
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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 RCV001959848 SCV002211700 uncertain significance Noonan syndrome 2021-04-09 criteria provided, single submitter clinical testing 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RRAS-related conditions. This variant is present in population databases (rs369240501, ExAC 0.003%). This sequence change replaces glycine with alanine at codon 141 of the RRAS protein (p.Gly141Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.
Ambry Genetics RCV004671542 SCV005164246 uncertain significance not specified 2024-03-15 criteria provided, single submitter clinical testing The p.G141A variant (also known as c.422G>C), located in coding exon 4 of the RRAS gene, results from a G to C substitution at nucleotide position 422. The glycine at codon 141 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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