ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.372-3C>T

gnomAD frequency: 0.00001  dbSNP: rs104895354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764775 SCV004572993 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-11-11 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the MVK gene. It does not directly change the encoded amino acid sequence of the MVK protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs104895354, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MVK-related conditions. ClinVar contains an entry for this variant (Variation ID: 97583). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083835 SCV000115937 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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