ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.644G>A (p.Arg215Gln) (rs104895303)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383593 SCV001582786 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-06-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 215 of the MVK protein (p.Arg215Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs104895303, ExAC 0.006%). This variant has been observed in individual(s) with mevalonate kinase deficiency (PMID: 11313769, 26409462, 27213830, 15536479). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 97608). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083860 SCV000115965 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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