Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |
Genome |
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. |