ClinVar Miner

Submissions for variant NM_000431.3(MVK):c.417dupC (p.Gly140Argfs) (rs104895373)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657168 SCV000778888 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The c.417dupC variant has been reported previously in association with both mevalonate kinase deficiency (MKD) and disseminated superficial actinic porokeratosis (DSAP) (Mandey et al., 2006; von Linstow et al., 2014; Zhang et al., 2012). The duplication causes a frameshift starting with codon Glycine, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 47 of the new reading frame, denoted p.Gly140ArgfsX47. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
OMIM RCV000032941 SCV000056713 pathogenic Mevalonic aciduria 2012-10-01 no assertion criteria provided literature only
OMIM RCV000074423 SCV000108439 pathogenic Porokeratosis 3, disseminated superficial actinic type 2012-10-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083840 SCV000115942 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.