ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.564G>A (p.Trp188Ter) (rs104895311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725893 SCV000340299 pathogenic not provided 2016-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000725893 SCV001167684 pathogenic not provided 2019-03-24 criteria provided, single submitter clinical testing The W188X variant in the MVK gene has been reported previously with a second variant in the MVK gene in association hyper-IgD syndrome (Saulsbury, 2003; Stojanov et al., 2004). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W188X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W188X as a pathogenic variant.
Invitae RCV001381668 SCV001580160 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp188*) in the MVK gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mevalonate kinase deficiency (PMID: 15188372). ClinVar contains an entry for this variant (Variation ID: 97597). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083849 SCV000115952 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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