ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1158T>G (p.Phe386Leu)

dbSNP: rs2053264281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171563 SCV001334353 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001171563 SCV002578873 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Apparently de novo variant in a patient with autism previously tested at GeneDx; This variant is associated with the following publications: (PMID: 25641759)
Invitae RCV003640959 SCV004508667 likely benign DYRK1A-related intellectual disability syndrome 2023-10-13 criteria provided, single submitter clinical testing

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