ClinVar Miner

Submissions for variant NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter) (rs886040872)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000257976 SCV000324897 pathogenic Cylindromatosis, familial 2016-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000760471 SCV000890360 pathogenic not provided 2018-12-18 criteria provided, single submitter clinical testing The S371X variant in the CYLD gene has been reported previously in multiple unrelated individuals with either Brooke-Spiegler syndrome, familial cylindromatosis, or multiple familial trichoepitheliomas (Bignell et al., 2000; Bowen et al., 2005; Kazakov et al., 2011; Linos et al., 2011; Grossman et al., 2013; Lv et al., 2014; Dubois et al., 2017; Monteiro et al., 2018a; Monteiro et al., 2018b). The S371X is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S371X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret S371X as a pathogenic variant.

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