Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521626 | SCV000621287 | pathogenic | not provided | 2017-10-02 | criteria provided, single submitter | clinical testing | The c.312 C>A variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a different nucleotide change (c.312C>G) resulting in the same amino acid change has been reported as de novo in a child with congenital microcephaly, developmental delay, intellectual disability, short stature, distinct facial features, abnormal brain MRI, skeletal anomalies, strabismus, and feeding difficulties (Ji et al., 2015). The Y104X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y104X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y104X as a pathogenic variant. |
MGZ Medical Genetics Center | RCV002289712 | SCV002579212 | pathogenic | DYRK1A-related intellectual disability syndrome | 2022-05-19 | criteria provided, single submitter | clinical testing |