ClinVar Miner

Submissions for variant NM_004714.3(DYRK1B):c.1729C>T (p.Pro577Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003146916 SCV003830823 uncertain significance Abdominal obesity-metabolic syndrome 3 2021-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004725661 SCV005335821 uncertain significance DYRK1B-related disorder 2024-09-18 no assertion criteria provided clinical testing The DYRK1B c.1729C>T variant is predicted to result in the amino acid substitution p.Pro577Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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