ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.181G>C (rs1004469515)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533864 SCV000640110 uncertain significance Anauxetic dysplasia 2017-08-30 criteria provided, single submitter clinical testing This sequence change occurs in 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RMRP-related disease. A different variant  at this position (n.181G>A) has been reported in individuals affected with cartilage-hair hypoplasia (PMID: 12107819, 27862957, 16254002), indicating that this residue may be critical for RMRP function. This variant is located within the P2 region of the RMRP RNA, which is required for interaction with Rpp38 (PMID: 15096576). Functional studies testing the effect of this variant on RMRP secondary structure or function have not been reported. In summary, this variant is a novel sequence change within one of the functional regions of RMRP. It has been classified as a Variant of Uncertain Significance.

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