ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2343_2344delinsTT (p.Lys781_Lys782delinsAsnTer)

dbSNP: rs2125290668
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001449594 SCV001652709 pathogenic not provided 2021-05-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge Not observed in large population cohorts (Lek et al., 2016) Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease De novo variant with confirmed parentage in a patient with features of a SETD5-related disorder previously tested at GeneDx"

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