ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.945G>A (p.Leu315=) (rs752469036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000904 SCV001157987 uncertain significance not specified 2018-11-14 criteria provided, single submitter clinical testing The MVK c.945G>A; p.Leu315Leu variant (rs752469036), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is present in the East Asian population with an allele frequency of 0.07% (12/18392 alleles) in the Genome Aggregation Database. This is a synonymous variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic acceptor splice site. Considering available information, the clinical significance of this variant cannot be determined.
Invitae RCV001370355 SCV001566826 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-10-20 criteria provided, single submitter clinical testing This sequence change affects codon 315 of the MVK mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MVK protein. This variant is present in population databases (rs752469036, ExAC 0.02%). This variant has not been reported in the literature in individuals with MVK-related conditions. ClinVar contains an entry for this variant (Variation ID: 811196). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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