ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.215A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809024 SCV000949160 uncertain significance Anauxetic dysplasia 2018-08-15 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 observed on the opposite chromosome (in trans) from a likely pathogenic variant in an individual with a phenotype consistent with RMRP-related disease (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. An RNA folding algorithm suggests that this sequence change is likely to be deleterious (PMID: 23315997). However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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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