ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-25_-13dup (rs1554651508)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549540 SCV000640114 likely pathogenic Anauxetic dysplasia 2018-10-30 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 involves a sequence duplication at -25 to -13 positions of the RMRP promoter inserting 13 nucleotides between -13 and -12 positions of the RMRP promoter. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in combination with other RMRP variants in individuals affected with RMRP-related diseases (PMID: 21396580, 24217815, Invitae). This variant is also known as g.-25_-13dup and g.-26_-14dup in the literature. In addition, this variant is located in the promoter region between the TATA box and the transcription initiation site, and other similar insertions and duplications immediately upstream of the coding sequence have been reported in individuals affected with cartilage-hair hypoplasia (PMID: 11207361, 16838329, 17189938, 21570718, 21396580). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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