Submissions for variant NM_000431.4(MVK):c.185G>A (p.Trp62Ter)

dbSNP: rs104895306

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003764774	SCV004570800	pathogenic	Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever	2023-11-07	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp62*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive hyper IgD syndrome (HIDS) (PMID: 11313768). ClinVar contains an entry for this variant (Variation ID: 97576). For these reasons, this variant has been classified as Pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083828	SCV000115930	not provided	Hyperimmunoglobulin D with periodic fever		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701662	SCV001929277	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701662	SCV001957738	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701662	SCV001966784	pathogenic	not provided		no assertion criteria provided	clinical testing