ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-22_-13dup (rs1554651507)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000015278 SCV000790493 likely pathogenic Metaphyseal chondrodysplasia, McKusick type 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000799677 SCV000939352 likely pathogenic Anauxetic dysplasia 2018-07-24 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 present in population databases (rs727502775), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in several individuals affected with cartilage hair hypoplasia (PMID: 16254002, 11207361, 28094436). ClinVar contains an entry for this variant (Variation ID: 14210). Experimental analyses using patient derived cells, as well as in vitro transfection studies, have shown that these promoter insertions result in silencing of RMRP transcription and reduced expression of the gene product (PMID: 11207361, 16254002). 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.
OMIM RCV000015278 SCV000035537 pathogenic Metaphyseal chondrodysplasia, McKusick type 2001-01-26 no assertion criteria provided literature only

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