ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.146C>T (rs757576534)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667121 SCV000791521 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000423534 SCV000523960 likely pathogenic not provided 2016-01-29 criteria provided, single submitter clinical testing To our knowledge, the r. (146 c>t) variant in the RMRP gene, also referred to as r.(145 c>t), has not been published previously as a pathogenic variant nor a benign variant. This substitution occurs at a position that is conserved in mammals and changes a C:G Watson-Crick base pair to a T:G wobble base pair. In addition, other substitutions within the same stem (r.(147 g>a), r.(147 g>c), and r.(169 g>a)) have been reported in the Human Gene Mutation Database in association with CHH (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000822579 SCV000963388 uncertain significance Anauxetic dysplasia 2018-12-28 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. While this variant is present in population databases (rs757576534), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RMRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 383542). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change 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.

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