ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.28G>A (p.Gly10Arg)

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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 RCV003643747 SCV004412098 uncertain significance Noonan syndrome 2023-08-04 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with RRAS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 10 of the RRAS protein (p.Gly10Arg).
Ambry Genetics RCV004857988 SCV005493768 uncertain significance not specified 2024-08-20 criteria provided, single submitter clinical testing The c.28G>A (p.G10R) alteration is located in exon 1 (coding exon 1) of the RRAS gene. This alteration results from a G to A substitution at nucleotide position 28, causing the glycine (G) at amino acid position 10 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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