ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer)

dbSNP: rs1131691946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494603 SCV000583196 pathogenic not provided 2017-05-25 criteria provided, single submitter clinical testing The c.705_707delTTTinsAC variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.705_707delTTTinsAC variant causes a frameshift, changing codon Cysteine 235 to a premature Stop codon, denoted p.Cys235Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.705_707delTTTinsAC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.705_707delTTTinsAC as a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265308 SCV001443425 pathogenic Complex neurodevelopmental disorder 2018-08-13 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-08-13 and interpreted as Pathogenic. Variant was initially reported on 2017-05-30 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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