ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.1116C>T (p.Ile372=)

gnomAD frequency: 0.00001  dbSNP: rs368066027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001476430 SCV001680638 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001476430 SCV002812479 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2021-10-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001476430 SCV003920220 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2021-03-30 criteria provided, single submitter clinical testing MVK NM_000431 exon 11 p.Ile372Ile (c.1116C>T): This variant has not been reported in the literature but is present in 2/30782 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs368066027). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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