ClinVar Miner

Submissions for variant NM_004714.3(DYRK1B):c.625G>A (p.Val209Ile)

gnomAD frequency: 0.00001  dbSNP: rs556237495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201390 SCV000239962 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003401044 SCV004106034 uncertain significance DYRK1B-related disorder 2024-02-21 no assertion criteria provided clinical testing The DYRK1B c.625G>A variant is predicted to result in the amino acid substitution p.Val209Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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