ClinVar Miner

Submissions for variant NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs) (rs104895322)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823039 SCV000963877 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly25Trpfs*55) 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 individuals affected with mevalonate kinase deficiency (PMID: 12563048, 16835861). This variant is also known as c.72insT or c.72_73insT in the literature. ClinVar contains an entry for this variant (Variation ID: 88836). 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.
OMIM RCV000074424 SCV000108440 pathogenic Mevalonic aciduria 2003-02-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083866 SCV000115971 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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