ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.790C>T (p.Leu264Phe) (rs104895315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381670 SCV001580162 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-07-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 264 of the MVK protein (p.Leu264Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in individuals affected with mevalonate kinase deficiency (PMID: 11313768). It has also been observed in individuals with clinical features of mevalonate kinase deficiency (PMID: 10417275, 19786432, 22038276, 22566169, 29047407). ClinVar contains an entry for this variant (Variation ID: 97625). This variant has been reported to affect MVK protein function (PMID: 10417275). For these reasons, this variant has been classified as Pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083877 SCV000115982 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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