ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp)

gnomAD frequency: 0.00001  dbSNP: rs1191825046
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002028468 SCV002286405 uncertain significance RFT1-congenital disorder of glycosylation 2022-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1496250). This variant has not been reported in the literature in individuals affected with RFT1-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 aspartic acid, which is acidic and polar, at codon 464 of the RFT1 protein (p.Gly464Asp). 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 tolerated. 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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