ClinVar Miner

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

gnomAD frequency: 0.00354  dbSNP: rs104895331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
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 RCV000224758 SCV000604324 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing
Invitae RCV001086945 SCV000645644 benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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.
GeneDx RCV000224758 SCV001916898 benign not provided 2019-01-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533, 22246419, 25525159, 27884173, 24411001, 23006543, 28137891)
CeGaT Center for Human Genetics Tuebingen RCV000224758 SCV002497628 benign not provided 2023-10-01 criteria provided, single submitter clinical testing MVK: BP4, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262663 SCV002543523 benign Autoinflammatory syndrome 2022-04-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083872 SCV000115977 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001699120 SCV001923261 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699120 SCV001929568 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699120 SCV001958369 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699120 SCV001969102 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.