ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.277_283del (p.Glu93fs) (rs104895369)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779090 SCV000915576 uncertain significance MVK-Related Disorders 2017-10-05 criteria provided, single submitter clinical testing The MVK c.277_283delGAGGTTG (p.Glu93GlnfsTer38) variant results in a frameshift and is predicted to result in premature termination of the protein. The variant has been reported in a single study in which it is found in a single patient with mevalonate kinase deficiency in a compound heterozygous state (Mandey et al. 2006). Control data are unavailable for the p.Glu93GlnfsTer38 variant which not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium or the Genome Aggregation Database. Based on the limited evidence and the potential impact of frameshift variants, the p.Glu93GlnfsTer38 variant is classified as a variant of unknown significance but suspicious for pathogenicity for MVK-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083831 SCV000115933 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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