ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter) (rs1421204500)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760512 SCV000890403 pathogenic not provided 2018-11-23 criteria provided, single submitter clinical testing The R308X nonsense variant in the SETD5 gene has been reported previously as a de novo variant in an individual with a diagnosis of autism (Wang et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R308X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of R308X is consistent with the diagnosis of a SETD5-related disorder in this individual.
Mendelics RCV000987090 SCV001136288 likely pathogenic Mental retardation, autosomal dominant 23 2019-05-28 criteria provided, single submitter clinical testing

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