ClinVar Miner

Submissions for variant NC_000002.12:g.47142010_47142443dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000757934 SCV000886462 likely benign Lynch syndrome 2018-05-17 criteria provided, single submitter research The variant known as the EPCAM exon 1 duplication was previously classified as a variant of uncertain significance is now classified as likely benign. Family cosegregation analysis was performed on one observed family using analyze.myvariant.org (Rañola et al, 2018, PMID:28965303) and shows a likelihood ratio of 0.14 to 1 that this allele explains Lynch syndrome cancers in the family (Thompson et al., 2003. PMID:290079). Computational predictions also suggest the EPCAM exon 1 duplication is benign. Together, this information is not consistent with a pathogenic mutation in EPCAM. Bayesian analysis integrating all of this data (Tavtigian et al, 2018, PMID:29300386) gives less than 1% probability of pathogenicity, which is consistent with a classification of likely benign. This variant is not predicted to alter EPCAM function or modify risk for Lynch syndrome. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study.

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