ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.769-7T>G (rs104895331)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224758 SCV000281492 likely benign not provided 2016-02-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507693 SCV000604324 likely benign none provided 2020-07-15 criteria provided, single submitter clinical testing
Invitae RCV001086945 SCV000645644 benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000083872 SCV001271974 likely benign Hyperimmunoglobulin D with periodic fever 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001114134 SCV001271975 likely benign Mevalonic aciduria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Institute Rare Disease Group, Broad Institute RCV001258306 SCV001435255 benign Nemaline myopathy 5 criteria provided, single submitter research The heterozygous c.769-7T>G variant in MVK has been identified in at least 2 individuals including 1 individual with unknown phenotype and other variants in cis, and 1 individual with mevalonate kinase deficiency (Touitou & Domingo-Rittore, personal communication to Infevers database, 2004; PMID: 22246419), and has been identified in >2% of South Asian chromosomes and 8 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive mevalonic kinase deficiency.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083872 SCV000115977 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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