ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.560_561del (p.Lys187fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004534287 SCV004115722 pathogenic MVK-related disorder 2022-11-28 criteria provided, single submitter clinical testing The MVK c.560_561delAG variant is predicted to result in a frameshift and premature protein termination (p.Lys187Metfs*89). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Truncating variants upstream and downstream of this position have been reported as pathogenic for mevalonate kinase deficiency and hyper-IgD periodic fever syndrome (Human Gene Mutation Database, HGMD). Therefore, this variant is interpreted as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005209620 SCV005850125 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys187Metfs*89) 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 variant has not been reported in the literature in individuals affected with MVK-related conditions. ClinVar contains an entry for this variant (Variation ID: 2635502). For these reasons, this variant has been classified as Pathogenic.

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