ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.760C>T (p.Gln254Ter)

dbSNP: rs185019792
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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 RCV002013159 SCV002294258 uncertain significance RFT1-congenital disorder of glycosylation 2022-09-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RFT1-related conditions. This sequence change creates a premature translational stop signal (p.Gln254*) 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 present in population databases (no rsID available, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 1499951). 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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