ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) (rs104895317)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688831 SCV000816455 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 334 of the MVK protein (p.Ala334Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs104895317, ExAC 0.02%). This variant has been observed to be homozygous or in combination with another MVK variant in individuals affected with mevalonate kinase deficiency and retinitis pigmentosa (PMID: 10401001, 12563048, 16435210, 19786432), and has been shown to segregate with disease in several families (PMID: 9334262, 24084495, 28095071). ClinVar contains an entry for this variant (Variation ID: 11930). Experimental studies have shown that this missense change affects MVK protein function (PMID: 9334262). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012706 SCV000032941 pathogenic Mevalonic aciduria 2013-12-01 no assertion criteria provided literature only
OMIM RCV000074422 SCV000108438 pathogenic Hyperimmunoglobulin D with periodic fever 2013-12-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000074422 SCV000115913 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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