ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.129_130del (p.His44fs)

dbSNP: rs104895368
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216056 SCV001387828 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His44Glnfs*35) in the MVK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MVK are known to be pathogenic (PMID: 16835861, 17105862, 23834120). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 97574). This premature translational stop signal has been observed in individual(s) with mevalonate kinase deficiency (PMID: 16835861). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV001216056 SCV005632675 likely pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-03-21 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083826 SCV000115928 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.