ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe)

dbSNP: rs797044526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000190485 SCV000206793 likely pathogenic DYRK1A-related intellectual disability syndrome 2014-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000255647 SCV000321572 pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing The L295F pathogenic variant in the DYRK1A gene has been reported previously as an assumed de novo variant in an individual with congenital microcephaly, feeding difficulties, short stature, dysmorphic features, mild global developmental delay including severe speech delay, skeletal anomalies, blepharophimosis, abnormal gait, hand stereotypies, and duodenal atresia (Ji et al., 2015). The L295F variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L295F variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L295F as a pathogenic variant.

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