ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.195dup (rs796065036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548629 SCV000640111 uncertain significance Anauxetic dysplasia 2016-11-22 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 (rs796065036), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported as compound heterozygous with another RMRP variant in individuals affected with RMRP-related conditions (PMID: 14569125, 16838329, Invitae). ClinVar contains an entry for this variant (Variation ID: 14223). There has been no experimental studies reported for the impact of this variant on RMRP secondary structure or function. In summary, this variant is a rare sequence change with unknown functional impact on the encoded RNA. It has been classified as a Variant of Uncertain Significance.
OMIM RCV000015291 SCV000035550 pathogenic Metaphyseal chondrodysplasia, McKusick type 2003-10-01 no assertion criteria provided literature only

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