Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503841 | SCV000594473 | pathogenic | DYRK1A-related intellectual disability syndrome | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000503841 | SCV000833797 | pathogenic | DYRK1A-related intellectual disability syndrome | 2022-11-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162152). This premature translational stop signal has been observed in individual(s) with developmental disorders, including intellectual disability and autism (PMID: 25920557, 28053047, 29034068). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg255*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). |
Gene |
RCV000760477 | SCV000890366 | pathogenic | not provided | 2018-10-24 | criteria provided, single submitter | clinical testing | The R255X variant in the DYRK1A gene has been reported previously as de novo in an individual with microcephaly, intellectual disability, autism, seizures, and dysmorphic features (Bronicki et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R255X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R255X as a pathogenic variant |
Ce |
RCV000760477 | SCV001502416 | pathogenic | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Department of Genetics, |
RCV003126545 | SCV003804064 | pathogenic | Autism spectrum disorder | criteria provided, single submitter | clinical testing | ||
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000503841 | SCV004176378 | pathogenic | DYRK1A-related intellectual disability syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | The stop gained c.736C>T(p.Arg246Ter) variant in DYRK1A gene has been reported previously as de novo in individual(s) affected with developmental disorders, including intellectual disability and autism (Earl RK, et. al., 2017; Bronicki LM, et. al., 2015). The c.736C>T variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic (multiple submissions). The nucleotide change c.736C>T in DYRK1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This sequence change creates a premature translational stop signal (p.Arg255Ter) in the DYRK1A gene. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants in DYRK1A gene have been previously reported to be disease causing (Ji J, et. al., 2015). For these reasons, this variant has been classified as Pathogenic. This variant in DYRK1A gene is absent in both the parents, hence, confirming that this is a de-novo variant. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000149558 | SCV000196057 | pathogenic | Seizure; Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development | 2014-09-09 | no assertion criteria provided | research | |
Service de Génétique Moléculaire, |
RCV000503841 | SCV001432353 | pathogenic | DYRK1A-related intellectual disability syndrome | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001507325 | SCV001712097 | pathogenic | Intellectual disability | 2019-06-19 | no assertion criteria provided | clinical testing |