Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001594835 | SCV001827963 | pathogenic | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect on mevalonate kinase activity (Mandey et al., 2006); This variant is associated with the following publications: (PMID: 32441320, 32822427, 16835861, 27387687, 29624229) |
Invitae | RCV001857407 | SCV002228760 | pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2023-09-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt MVK protein function. ClinVar contains an entry for this variant (Variation ID: 97603). This missense change has been observed in individual(s) with autosomal recessive mevalonate kinase deficiency (PMID: 16835861, 25677409, 26986117, 29047407, 32822427). This variant is present in population databases (rs104895364, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 205 of the MVK protein (p.Asn205Asp). |
Genome Diagnostics Laboratory, |
RCV002262662 | SCV002542337 | likely pathogenic | Autoinflammatory syndrome | 2021-11-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001857407 | SCV002806561 | likely pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2021-07-27 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000083855 | SCV000115960 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |