ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.613A>G (p.Asn205Asp)

gnomAD frequency: 0.00001  dbSNP: rs104895364
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594835 SCV001827963 pathogenic not provided 2019-06-24 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on mevalonate kinase activity (Mandey et al., 2006); This variant is associated with the following publications: (PMID: 32441320, 32822427, 16835861, 27387687, 29624229)
Invitae RCV001857407 SCV002228760 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MVK protein function. ClinVar contains an entry for this variant (Variation ID: 97603). This missense change has been observed in individual(s) with autosomal recessive mevalonate kinase deficiency (PMID: 16835861, 25677409, 26986117, 29047407, 32822427). This variant is present in population databases (rs104895364, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 205 of the MVK protein (p.Asn205Asp).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262662 SCV002542337 likely pathogenic Autoinflammatory syndrome 2021-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001857407 SCV002806561 likely pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2021-07-27 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083855 SCV000115960 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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