ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg)

gnomAD frequency: 0.00001  dbSNP: rs927269749
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001970378 SCV002256897 uncertain significance RFT1-congenital disorder of glycosylation 2021-05-14 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 RFT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 514 of the RFT1 protein (p.Gly514Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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