ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.97_98dup (rs1340624774)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529672 SCV000640121 likely pathogenic Anauxetic dysplasia 2017-06-29 criteria provided, single submitter clinical testing This sequence change occurs in the RMRP gene, which encodes the RNA component of the RNase mitochondrial RNA processing (MRP) complex and does not result in a protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported as homozygous and in combination with other RMRP variants in individuals affected with RMRP-related diseases (PMID: 11207361, 12107819, 16244706, Invitae). This variant is also known as 98dupTG and g.96_97dupTG in the literature. Experimental studies have shown that while this variant does not affect protein subunit association with RNA, it does exhibit impaired cleavage of 5.8S rRNA and CCNB2 mRNA (PMID: 11207361, 17701897). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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