Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000190485 | SCV000206793 | likely pathogenic | DYRK1A-related intellectual disability syndrome | 2014-09-15 | criteria provided, single submitter | clinical testing | |
Gene |
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. |