ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1320C>T (p.Tyr440=)

gnomAD frequency: 0.00001  dbSNP: rs1336115331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001488296 SCV001692804 likely benign DYRK1A-related intellectual disability syndrome 2020-08-03 criteria provided, single submitter clinical testing
GeneDx RCV002298952 SCV002587838 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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