Submissions for variant NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs)

dbSNP: rs1555979106

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000627602	SCV000748602	pathogenic	not provided	2018-04-25	criteria provided, single submitter	clinical testing	The c.247dupC variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.247dupC variant causes a frameshift starting with codon Glutamine 83, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Gln83ProfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.247dupC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.247dupC as a pathogenic variant.
GenomeConnect - Simons Searchlight	RCV001265241	SCV001443355	pathogenic	Complex neurodevelopmental disorder	2018-07-02	no assertion criteria provided	provider interpretation	Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-07-02 and interpreted as Pathogenic. Variant was initially reported on 2018-05-07 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.