ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) (rs1592919048)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008662 SCV001168441 pathogenic not provided 2019-01-22 criteria provided, single submitter clinical testing The W1359X nonsense variant in the MED13L gene has been reported previously as a de novo change in association with autism spectrum disorder (Wang et al., 2016; Isossifov et al., 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek., 2016). Therefore the W1359X is a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265126 SCV001443159 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2016-06-21 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-06-21 and interpreted as Pathogenic. Variant was initially reported by the University of Washington TIGER Study and was later confirmed by GeneDx. CK3+CK19626957The reporting laboratory might also submit to ClinVar.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291369 SCV001479843 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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