ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.118C>T (p.Arg40Trp)

gnomAD frequency: 0.00001  dbSNP: rs1055952433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262071 SCV002542322 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV003774819 SCV004570778 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-09-22 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with hyper IgD syndrome and/or recurrent fever (PMID: 21630610, 32199921). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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. 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 not expected to disrupt MVK protein function. ClinVar contains an entry for this variant (Variation ID: 1694349). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 40 of the MVK protein (p.Arg40Trp).

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