ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.643C>T (p.Arg215Ter) (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 2015-11-16 criteria provided, single submitter clinical testing The R215X pathogenic variant has not been published previously to our knowledge, and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Invitae RCV001215092 SCV001386813 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-08-17 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. This variant is present in population databases (rs758026399, ExAC 0.006%). This variant has been observed in an individual affected with mevalonate kinase deficiency (PMID: 29047407). ClinVar contains an entry for this variant (Variation ID: 234379). 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.

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