Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480950 | SCV000568224 | pathogenic | not provided | 2021-10-04 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a significantly lowered MK enzyme activity (Rolland et al., 2005; Mandey et al., 2006); Not observed at significant frequency in large population cohorts (Lek 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: 25525159, 21708801, 16835861, 16435209, 21225694, 22038276, 22566169, 27213830, 21124859, 28814775, 31096039, 31589614) |
Ce |
RCV000480950 | SCV001246719 | pathogenic | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001381669 | SCV001580161 | pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 237 of the MVK protein (p.Thr237Ser). This variant is present in population databases (rs104895366, gnomAD 0.002%). This missense change has been observed in individual(s) with Mevalonate kinase deficiency (PMID: 16197847, 16835861, 21708801, 28814775, 31096039). ClinVar contains an entry for this variant (Variation ID: 97612). 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 with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001381669 | SCV002776185 | pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000083864 | SCV003808088 | likely pathogenic | Hyperimmunoglobulin D with periodic fever | 2022-10-21 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS3 supporting, PS4 strong, PM2 moderated, PP3 supporting |
Unité médicale des maladies autoinflammatoires, |
RCV000083864 | SCV000115969 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |