ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.698C>T (p.Ala233Val)

gnomAD frequency: 0.00001  dbSNP: rs751030368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001941279 SCV002207922 uncertain significance RFT1-congenital disorder of glycosylation 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 233 of the RFT1 protein (p.Ala233Val). This variant is present in population databases (rs751030368, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. 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.
Revvity Omics, Revvity RCV001941279 SCV004236578 uncertain significance RFT1-congenital disorder of glycosylation 2023-11-15 criteria provided, single submitter clinical testing

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