Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001906874 | SCV002181400 | uncertain significance | RFT1-congenital disorder of glycosylation | 2021-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys248Serfs*4) 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 (rs773274468, ExAC 0.009%). This variant has not been reported in the literature in individuals with RFT1-related conditions. 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. |