ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.511G>A (p.Gly171Arg) (rs104895337)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065483 SCV001230442 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 171 of the MVK protein (p.Gly171Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs104895337, ExAC 0.006%). This variant has been observed in individual(s) with hyper-IgD and periodic fever syndrome (PMID: 15536479, 21478439). ClinVar contains an entry for this variant (Variation ID: 97595). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083847 SCV000115950 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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