ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.257_266del (rs1383432106)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527817 SCV000640115 uncertain significance Anauxetic dysplasia 2017-08-02 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. 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 reported in combination with other RMRP variants in individuals affected with cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders (PMID: 16838329, 17701897). This variant is also known as 256_265del and 254_263delCTCAGCGCGG in the literature. Analysis of RNA extracted from a lymphoblastoid cell line of a patient showed that this sequence change leads to loss of expression of the RMRP gene product (PMID: 17701897). 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.

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