ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.159A>G (rs535595484)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641011 SCV000762621 uncertain significance Anauxetic dysplasia 2017-12-27 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. 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 functional significance of this change 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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