ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.417dup (p.Gly140fs)

dbSNP: rs104895373
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657168 SCV000778888 pathogenic not provided 2019-11-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22983302, 16835861, 24716072, 31980526, 31589614)
Fulgent Genetics, Fulgent Genetics RCV005003419 SCV005632697 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005003419 SCV005863508 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly140Argfs*47) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with mevalonate kinase deficiency or porokeratosis (PMID: 16835861, 22983302, 24716072). This variant is also known as c.417insC, c.417_418insC, and p.G140fs. ClinVar contains an entry for this variant (Variation ID: 39727). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000032941 SCV000056713 pathogenic Mevalonic aciduria 2012-10-01 no assertion criteria provided literature only
OMIM RCV000074423 SCV000108439 pathogenic Porokeratosis 3, disseminated superficial actinic type 2012-10-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083840 SCV000115942 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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