ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.148A>T (p.Arg50Ter)

dbSNP: rs2107173109
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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 RCV001907616 SCV002120981 uncertain significance RFT1-congenital disorder of glycosylation 2020-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg50*) in the RFT1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RFT1 cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RFT1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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