Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038599 | SCV001202078 | uncertain significance | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 121 of the MVK protein (p.Arg121Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs368026034, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with MVK-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Gene |
RCV001836933 | SCV002097442 | uncertain significance | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing | Observed in a patient with recurrent fevers in published literature (Ginsberg S et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27612399) |
Genome Diagnostics Laboratory, |
RCV002264149 | SCV002542330 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001038599 | SCV002777561 | uncertain significance | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001836933 | SCV004226376 | uncertain significance | not provided | 2022-08-03 | criteria provided, single submitter | clinical testing |