ClinVar Miner

Submissions for variant NM_001164731.2(REEP1):c.*50G>A (rs189652973)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415754 SCV000493298 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000198109 SCV000252191 uncertain significance not specified 2016-07-22 criteria provided, single submitter clinical testing The c.+50 G>A variant has been reported previously as a pathogenic variant in a patient with hereditary spastic paraplegia using alternate nomenclature (Zuchner et al., 2006). The c.+50 G>A variant is located at a highly conserved position in the 3' untranslated region (UTR) of the REEP1 gene and replaces a G:U wobble base pair with an A:U Watson-Crick pair (Zuchner et al., 2006). G:U wobble base pairing inhibits micro-RNA mediated repression of translation; therefore, the authors predict that the c.+50 G>A variant would lead to less available REEP1 protein (Zuchner et al., 2006). However, the true effect of c.+50 G>A in vivo is not known and very few variants in the 3' UTR of the REEP1 gene have been reported as pathogenic according to the Human Gene Mutation Database (Stenson, 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000327009 SCV000432410 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing

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