ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.195G>C

dbSNP: rs761398394
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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 RCV001974129 SCV002257824 uncertain significance Anauxetic dysplasia 2021-05-18 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with RMRP-related conditions. 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 RCV004690212 SCV005185743 uncertain significance not specified 2024-05-31 criteria provided, single submitter clinical testing Variant summary: RMRP n.194G>C alters a nucleotide in the non-coding RNA. The variant was absent in 130340 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of n.194G>C in individuals affected with Cartilage-Hair Hypoplasia and no experimental evidence demonstrating its impact have been reported. ClinVar contains an entry for this variant (Variation ID: 1478325). Based on the evidence outlined above, the variant was classified as uncertain significance.

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