ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.643C>T (p.Arg215Ter)

dbSNP: rs758026399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221444 SCV000279120 pathogenic not provided 2019-11-26 criteria provided, single submitter clinical testing Identified in an unrelated patient in published literature who did not harbor a second MVK variant (Papa et al., 2017); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29047407)
Labcorp Genetics (formerly Invitae), Labcorp RCV001215092 SCV001386813 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg215*) 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 present in population databases (rs758026399, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with mevalonate kinase deficiency (PMID: 29047407). ClinVar contains an entry for this variant (Variation ID: 234379). For these reasons, this variant has been classified as Pathogenic.

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