ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-7_1dup (rs752934195)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576363 SCV000677959 likely pathogenic Metaphyseal chondrodysplasia, McKusick type 2016-05-17 criteria provided, single submitter clinical testing
Invitae RCV000796381 SCV000935893 uncertain significance Anauxetic dysplasia 2018-09-14 criteria provided, single submitter clinical testing This sequence change occurs in the RMRP gene, which encodes the RNA component of the RNase mitochondrial RNA processing (MRP) complex, and does not result in a protein product. This variant duplicates a span of 7 nucleotides of the promoter region and 1 nucleotide of the open reading frame of the RMRP gene. While this variant is present in population databases (rs752934195), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with cartilage-hair hypoplasia (PMID: 16244706). ClinVar contains an entry for this variant (Variation ID: 487440). While functional studies for this variant have not been reported, experimental analyses using patient derived cells, as well as in vitro transfection studies, have shown that promoter insertions result in silencing of RMRP transcription and reduced expression of the gene product (PMID: 11207361, 16254002). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.