ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.144G>A

dbSNP: rs113967059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982690 SCV002225447 uncertain significance Anauxetic dysplasia 2024-10-30 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 (rs113967059, gnomAD 0.01%). 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: 1445006). 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 RCV003490966 SCV004242091 uncertain significance not specified 2023-12-08 criteria provided, single submitter clinical testing Variant summary: RMRP n.143G>A alters a non-conserved nucleotide in a non-coding RNA gene. The variant allele was found at a frequency of 3e-05 in 696820 control chromosomes (i.e. in 21 carriers) in the gnomAD database, v4.0 dataset. This frequency is not higher than the estimated maximum expected for a pathogenic variant in RMRP causing Cartilage-Hair Hypoplasia (0.0072), allowing no conclusion about variant significance. To our knowledge, no occurrence of n.143G>A in individuals affected with Cartilage-Hair Hypoplasia and no experimental evidence demonstrating its impact on RNA function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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