ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.115G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696872 SCV000825452 uncertain significance Anauxetic dysplasia 2018-07-07 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 not been reported in the literature in individuals with RMRP-related disease. Experimental studies and prediction algorithms are not available for this variant, and the impact of this change on RMRP secondary structure or function is currently unknown. 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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