ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.125C>A

gnomAD frequency: 0.00022  dbSNP: rs758130879
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001058508 SCV001223086 uncertain significance Anauxetic dysplasia 2022-10-13 criteria provided, single submitter clinical testing This variant occurs in the RMRP gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (rs758130879, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RMRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 426730). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
PreventionGenetics, part of Exact Sciences RCV003419823 SCV004113527 uncertain significance RMRP-related disorder 2023-01-09 criteria provided, single submitter clinical testing The RMRP n.124C>A is a noncoding alteration. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.041% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-35657892-G-T). In ClinVar, this variant is interpreted as Uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/426730/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001271384 SCV001452495 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2020-01-17 no assertion criteria provided clinical testing

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