ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-20C>T

dbSNP: rs183974004
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817458 SCV000958019 uncertain significance Anauxetic dysplasia 2022-06-20 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 (rs183974004, gnomAD 0.02%). 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: 660293). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282379 SCV002571074 uncertain significance not specified 2022-07-13 criteria provided, single submitter clinical testing Variant summary: RMRP n.-20C>T is located in the untranscribed region upstream of the RMRP gene region. The variant allele was found at a frequency of 0.00012 in 152184 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in RMRP causing Cartilage-Hair Hypoplasia (0.00012 vs 0.0072), allowing no conclusion about variant significance. To our knowledge, no occurrence of n.-20C>T in individuals affected with Cartilage-Hair Hypoplasia and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002487808 SCV002787508 uncertain significance Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 2022-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825645 SCV002075606 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2021-04-15 no assertion criteria provided clinical testing

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