ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.319G>A (p.Val107Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004333417 SCV003997894 uncertain significance not specified 2023-03-16 criteria provided, single submitter clinical testing The p.V107M variant (also known as c.319G>A), located in coding exon 3 of the RRAS gene, results from a G to A substitution at nucleotide position 319. The valine at codon 107 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777176 SCV004614519 uncertain significance Noonan syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 107 of the RRAS protein (p.Val107Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 2564295). 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. 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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