ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) (rs104895360)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214882 SCV000279124 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing The R388X nonsense mutation in the MVK gene has been reported previously in association with MKD disorders (Houten et al., 2000; Prasad et al., 2012). It was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R388X is predicted to cause loss of normal protein function through production of a truncated protein that is missing the last 9 amino acids of the normal MVK protein.
Invitae RCV001038569 SCV001202046 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-01-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MVK gene (p.Arg388*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acids of the MVK protein. This variant is present in population databases (rs104895360, ExAC 0.002%). This variant has been observed in the homozygous state in individuals affected with mevalonate kinase deficiency (PMID: 23146290, 27012807, 23998246). ClinVar contains an entry for this variant (Variation ID: 97572). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083824 SCV000115926 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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