ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.1G>A (rs773520232)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641010 SCV000762620 uncertain significance Anauxetic dysplasia 2018-10-29 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 present in population databases (rs773520232), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in individuals affected with RMRP-related diseases. ClinVar contains an entry for this variant (Variation ID: 533765). There have been no experimental studies reported for the impact of this variant on RMRP secondary structure or function. 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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