ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1071C>G (p.Ile357Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002982226 SCV003289115 uncertain significance RFT1-congenital disorder of glycosylation 2022-01-04 criteria provided, single submitter clinical testing 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 isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 357 of the RFT1 protein (p.Ile357Met). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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