ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.545T>A (p.Leu182Ter)

dbSNP: rs1566147222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695407 SCV000823904 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2018-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu182*) 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 on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with periodic fever and increased mevalonic acid (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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.
PreventionGenetics, part of Exact Sciences RCV003983170 SCV004800451 likely pathogenic MVK-related condition 2024-02-20 criteria provided, single submitter clinical testing The MVK c.545T>A variant is predicted to result in premature protein termination (p.Leu182*). To our knowledge, this variant has not been reported in the literature or in the gnomAD database, indicating this variant is rare. Nonsense variants in MVK are expected to be pathogenic for autosomal recessive disease (see, Houten et al. 2000. PubMed ID: 11111075). This variant is interpreted as likely pathogenic.

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