ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.904C>T (p.Gln302Ter) (rs886048933)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000305900 SCV000375798 uncertain significance MVK-Related Disorders 2017-04-28 criteria provided, single submitter clinical testing The MVK c.904C>T (p.Gln302Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for MVK-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
GeneDx RCV000489947 SCV000576771 likely pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing The Q302X variant in the MVK gene has been reported previously in an individual with porokeratosis (Zhang et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q302X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q302X as a likely pathogenic variant.
Invitae RCV001384473 SCV001583977 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln302*) in the MVK gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with porokeratosis (PMID: 26202976). ClinVar contains an entry for this variant (Variation ID: 307100). Loss-of-function variants in MVK are known to be pathogenic (PMID: 16835861, 17105862, 23834120). For these reasons, this variant has been classified as Pathogenic.

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