ClinVar Miner

Submissions for variant NM_004714.3(DYRK1B):c.1181C>T (p.Pro394Leu)

gnomAD frequency: 0.00007  dbSNP: rs893357514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706831 SCV001934354 uncertain significance Abdominal obesity-metabolic syndrome 3 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746436 SCV005350010 uncertain significance DYRK1B-related disorder 2024-07-30 no assertion criteria provided clinical testing The DYRK1B c.1181C>T variant is predicted to result in the amino acid substitution p.Pro394Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.092% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, 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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