ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) (rs773900146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221182 SCV000272908 uncertain significance not specified 2015-02-06 criteria provided, single submitter clinical testing The p.Pro346Leu variant in WFS1 has been reported as compound heterozygous in 1 Caucasian individual with Wolfram syndrome (Cano 2007). This variant has also be en identified in 1/6748 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org); however, its frequency is not high enou gh to rule out a pathogenicity. Computational prediction tools and conservation analyses suggest that the p.Pro346Leu variant may impact the protein, though thi s information is not predictive enough to determine pathogenicity. In summary, t he clinical significance of the p.Pro346Leu variant is uncertain.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291575 SCV001480111 likely pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing

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