ClinVar Miner

Submissions for variant NC_000012.11:g.(?_110012646)_110013970del

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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 RCV001378769 SCV001576411 likely pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-04-29 criteria provided, single submitter clinical testing This variant is a complex rearrangement which results in the deletion of exon 3 and part of exon 2 of the MVK gene. This deletion is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. There is also some indication that the surrounding sequence could be disrupted, but the exact nature of this event is unknown. This variant has not been reported in the literature in individuals with MVK-related conditions. Loss-of-function variants in MVK are known to be pathogenic (PMID: 16835861, 17105862, 23834120). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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