Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001046559 | SCV001210464 | uncertain significance | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 132 of the MVK protein (p.Val132Ile). This variant is present in population databases (rs104895336, gnomAD 0.02%). This missense change has been observed in individual(s) with MVK-related disease and/or auto-inflammatory diseases (PMID: 15536479, 19786432, 19877056, 24531851, 26386126, 26935981, 29047407). ClinVar contains an entry for this variant (Variation ID: 97586). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MVK protein function. 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. |
| Fulgent Genetics, |
RCV001046559 | SCV002791246 | uncertain significance | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2022-03-02 | criteria provided, single submitter | clinical testing | |
| Unité médicale des maladies autoinflammatoires, |
RCV000083838 | SCV000115940 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |