ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.129_130del (p.His44fs) (rs104895368)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216056 SCV001387828 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2019-05-13 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with mevalonate kinase deficiency (PMID: 16835861). ClinVar contains an entry for this variant (Variation ID: 97574). 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 RCV000083826 SCV000115928 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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