ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.180dup (rs940080676)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560098 SCV000640109 uncertain significance Anauxetic dysplasia 2018-11-20 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 been observed in individual(s) with cartilage hair hypoplasia (PMID: 16838329). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also referred to as 179_180insC in the literature (PMID: 16838329). ClinVar contains an entry for this variant (Variation ID: 465202). 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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