ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.240C>G (p.Ser80Arg)

dbSNP: rs2107168045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001893051 SCV002164275 uncertain significance RFT1-congenital disorder of glycosylation 2021-07-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 80 of the RFT1 protein (p.Ser80Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. 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, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with RFT1-related conditions.

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