ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)

dbSNP: rs797044519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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