ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-22_-14dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801901 SCV000941700 likely pathogenic Anauxetic dysplasia 2018-07-23 criteria provided, single submitter clinical testing This sequence change occurs in the promoter region of the RMRP gene, which encodes an RNA molecule that does not result in a protein product. RMRP is a ribonuclease for mitochondrial RNA processing involved in the processing of pre-rRNA and the generation of RNA primers for mitochondrial DNA replication. 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 another RMRP variant in an individual affected with cartilage-hair hypoplasia (PMID: 16244706), and other similar insertions and duplications overlapping with this variant have been also reported in affected individuals (PMID: 11207361, 16244706, 16254002). Experimental analyses using patient derived cells, as well as in vitro transfection studies, have shown that these promoter insertions result in silencing of RMRP transcription and reduced expression of the gene product (PMID: 11207361, 16254002). 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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