ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.928G>A (p.Val310Met) (rs104895319)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414603 SCV000490630 pathogenic not provided 2017-07-19 criteria provided, single submitter clinical testing The V310M missense pathogenic variant has been reported previously in association with MKD disorders; specifically, this variant has been observed in association with Mevalonic Aciduria, which is the more severe form of MKD disorders (Houten et al., 2001; Mandey et al., 2006).
Invitae RCV000697433 SCV000826041 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 310 of the MVK protein (p.Val310Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs104895319, ExAC 0.01%). This variant has been observed in several individuals affected with symptoms consistent with melavonic aciduria (PMID: 10401001, 20194276, 27213830, 15536479, 28638818, 16835861). ClinVar contains an entry for this variant (Variation ID: 11934). Experimental studies have shown that this missense change disrupts protein folding and stability and abrogates the catalytic activity of mevalonate kinase (PMID: 10401001, 16835861, 12444096). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012712 SCV000032947 pathogenic Mevalonic aciduria 1999-08-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083890 SCV000115996 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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