ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1198del (p.Glu400fs)

dbSNP: rs748350251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627605 SCV000748605 likely pathogenic not provided 2022-02-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002529811 SCV003017879 uncertain significance RFT1-congenital disorder of glycosylation 2022-06-18 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 524109). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. This variant is present in population databases (rs748350251, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu400Argfs*8) 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.

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