ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-14_-2dup13

gnomAD frequency: 0.00003  dbSNP: rs1554651400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780684 SCV000918151 likely pathogenic Metaphyseal chondrodysplasia, McKusick type 2018-11-15 criteria provided, single submitter clinical testing Variant summary: RMRP n.-14_-2dup13 variant involves the duplication of 13 nucleotides in the promoter region of RMRP, which is located between the TATA box (-33 to -25) and the transcription initiation site. Multiple duplication variants in this promoter region have been reported pathogenic (internally and in HGMD). The variant was absent in 119274 control chromosomes (gnomAD). To our knowledge, no occurrence of n.-14_-2dup13 in individuals affected with Cartilage-Hair Hypoplasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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