Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090935 | SCV001246718 | pathogenic | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000032939 | SCV001429936 | pathogenic | Mevalonic aciduria | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001090935 | SCV001797086 | likely pathogenic | not provided | 2022-03-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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: 24008101, 22566169, 24131530, 15324368, 26794421, 27422687, 21274502, 16011988, 16835861, 11313769, 19543954, 34188266, 33168400, 33619735, 22983302) |
Fulgent Genetics, |
RCV002496494 | SCV002807548 | pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002496494 | SCV003441295 | likely pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 202 of the MVK protein (p.Gly202Arg). This variant is present in population databases (rs104895301, gnomAD 0.003%). This missense change has been observed in individual(s) with autosomal recessive mevalonate kinase deficiency (PMID: 11313769, 22566169; Invitae). This variant has been reported in individual(s) with autosomal dominant porokeratosis (PMID: 22983302, 26202976, 33168400); however, the role of the variant in this condition is currently unclear. This variant is also known as c.695G>A. ClinVar contains an entry for this variant (Variation ID: 39726). 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 with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
OMIM | RCV000032938 | SCV000056710 | pathogenic | Hyperimmunoglobulin D with periodic fever | 2012-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000032939 | SCV000056711 | pathogenic | Mevalonic aciduria | 2012-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000032940 | SCV000056712 | pathogenic | Porokeratosis 3, disseminated superficial actinic type | 2012-10-01 | no assertion criteria provided | literature only | |
Unité médicale des maladies autoinflammatoires, |
RCV000032938 | SCV000115956 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |