Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414603 | SCV000490630 | pathogenic | not provided | 2023-08-31 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a that homozygosity for this variant results in significantly decreased MK activity (PMID: 11313768); 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: 25469482, 34809655, 20194276, 11313768, 12444096, 26386126, 15536479, 28638818, 31980526, 10401001) |
Invitae | RCV000697433 | SCV000826041 | pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 310 of the MVK protein (p.Val310Met). This variant is present in population databases (rs104895319, gnomAD 0.01%). This missense change has been observed in individuals with symptoms consistent with melavonic aciduria (PMID: 10401001, 15536479, 16835861, 20194276, 27213830, 28638818). ClinVar contains an entry for this variant (Variation ID: 11934). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MVK protein function. Experimental studies have shown that this missense change affects MVK function (PMID: 10401001, 12444096, 16835861). For these reasons, this variant has been classified as Pathogenic. |
Genome Diagnostics Laboratory, |
RCV002262565 | SCV002542352 | pathogenic | Autoinflammatory syndrome | 2018-06-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012712 | SCV000032947 | pathogenic | Mevalonic aciduria | 1999-08-01 | no assertion criteria provided | literature only | |
Unité médicale des maladies autoinflammatoires, |
RCV000083890 | SCV000115996 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |