ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.124C>A (rs758130879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766062 SCV000897521 uncertain significance Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000489840 SCV000577256 uncertain significance not specified 2017-04-06 criteria provided, single submitter clinical testing The RMRP gene encodes the RNA subunit of a RNA processing enzyme complex (endoribonuclease). The r.124 C>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant occurs at a position that is not conserved. However, other variants in the same stem (r.125 C>T, r.127C>T, r.128 G>A, r.181 G>A, r.183 G>C, r.183 G>T, r.183 G>A) have been reported in the Human Gene Mutation Database in association with Cartilage-Hair Hypoplasia (Stenson et al., 2014), supporting the functional importance of this region of the gene. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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