ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1080G>T (p.Gly360=)

dbSNP: rs1189812930
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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 RCV001879458 SCV002141521 uncertain significance RFT1-congenital disorder of glycosylation 2022-06-03 criteria provided, single submitter clinical testing This sequence change affects codon 360 of the RFT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RFT1 protein. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1375028). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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