ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.449C>T (p.Ser150Leu)

gnomAD frequency: 0.00004  dbSNP: rs747116992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209009 SCV001380427 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 150 of the MVK protein (p.Ser150Leu). This variant is present in population databases (rs747116992, gnomAD 0.004%). This missense change has been observed in individual(s) with mevalonate kinase deficiency (PMID: 11313769, 16835861). ClinVar contains an entry for this variant (Variation ID: 939587). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MVK protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on MVK function (PMID: 11313769). 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.

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