Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001216056 | SCV001387828 | pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2023-09-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His44Glnfs*35) in the MVK gene. It is expected to result in an absent or disrupted protein product. 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. ClinVar contains an entry for this variant (Variation ID: 97574). This premature translational stop signal has been observed in individual(s) with mevalonate kinase deficiency (PMID: 16835861). This variant is not present in population databases (gnomAD no frequency). |
Fulgent Genetics, |
RCV001216056 | SCV005632675 | likely pathogenic | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2024-03-21 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000083826 | SCV000115928 | not provided | Hyperimmunoglobulin D with periodic fever | no assertion provided | not provided |